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Cute Kid with Books

What is it?

It is a group of disorders characterized by having less pigment in the eyes with (oculocutaneous albinism) or without (ocular albinism) low pigment of the skin and hair. It may be associated with shaky eyeballs (nystagmus), inability of the eyes to stay directed at the same point or move in unison (strabismus), decreased vision, and abnormal sensitivity to light. Rarely, it may be associated with other findings such as easy bruising and bleeding, susceptibility to infections, or hearing loss.

What causes it?

Mutations in one of several genes cause albinism.

How do we treat it?

Treatment includes careful determination of the inheritance pattern, genetic counselling and gene testing, as appropriate. Regular eye examination to look for a need for glasses or eye muscle surgery, and, when needed, using appropriate low vision devices can be helpful.  Sunglasses help with tolerating bright lights. Sunblock for the skin can help prevent skin cancer.

At URMC we specialize in treating visual challenges associated with albinism


What is it?
Amblyopia (lazy eye) is decreased vision in a child’s otherwise healthy eye that does not immediately improve with glasses. Rarely it can affect both eyes.

What causes it?
Amblyopia is an underdevelopment of the visual centers of the brain. There are three possible causes, and some children may have more than one cause:

  • Deprivation- light is blocked from entering the eye and the brain does not receive visual input. This is usually most severe in infants. Causes may include cataract (cloudy lens), corneal opacity (hazy front surface of the eye), ptosis (droopy eyelid), or blood inside the eye.
  • Strabismus (misaligned eyes)- not every child with an eye turn will develop amblyopia, but it is more common if one eye turns constantly.
  • Refractive (focusing)- when the two eyes have a large difference in prescription, they will focus at different distances. The brain will pick the eye that is easier to focus with, and the other eye will be ignored by the brain. Rarely, both eyes can develop amblyopia if the focusing problem in both eyes is very large.

How do we treat it?

  • Glasses- In many cases, the first step is to correct any focusing issues with glasses. Improvement in vision make take 2-6 months. About 50% of children will improve with glasses alone.
  • Patching- If glasses do not fully correct the amblyopia, a patch can be applied to the better-seeing eye for 2-6 hours per day to “force” the brain to see with the weaker eye.
  • Atropine- Atropine is an eye drop that can be placed in the better-seeing eye twice a week. It creates mild blur for near objects to give the weaker eye an advantage.
  • Surgery- Surgery may be performed to clear any of the causes of deprivation, or to re-align the eyes if strabismus is still present after treating the amblyopia.

URMC pediatric eye specialists are expert in managing amblyopia 


What is it?
Aniridia is a genetic eye disorder that can affect different structures in the eye. Some of the findings include missing some or all of the color portion of the eye (iris), elevated intraocular pressure (glaucoma), lens opacities (cataract), under development of the optic nerve (optic nerve hypoplasia), underdevelopment of the inner lining (retina) of the eye (macula hypoplasia) and problems with the front portion of the eye (cornea).The eyes may also shake (nystagmus).

Aniridia can be associated with non ocular conditions including hearing loss, diabetes, being overweight, developmental delay, and kidney (Wilms) tumor (WAGR syndrome) due to a missing piece of chromosome.

What causes it?
Aniridia is caused by a mutation or deletion of a gene named PAX6 that is located on chromosome 11. It can be  inherited from a parent or start in one person of a family.

How do we treat it?
In some patients, depending on genetic test results, renal ultrasounds are very important in order to rule out kidney tumor as this can occur later in childhood usually before 8 years of age. Genetic testing can prove that a child is not at increased risk for this tumor and for those children ultrasounds are not needed. Genetic testing is very important.

Screening for increased intraocular pressure (glaucoma) even if not present when the diagnosis of Aniridia is made is very important as it can develop in 50% of patients with Aniridia requiring glaucoma medication and sometimes surgery. High intraocular pressure can appear anytime in life making follow up very important.

Preservative free tear drops 3-4 times daily are very important even if there are no cornea problems at the time of diagnosis in order to prevent or delay the onset of corneal problems.

Children with Aniridia often need glasses, cataract surgery or eye muscle surgery. Attention must also be paid to visual development.

Our cross-disciplinary teams medically and surgically treat aniridia

Axenfeld-Rieger spectrum

What is it?

Axenfeld-Rieger is a spectrum of developmental disorders involving the front half of the eyeball, specifically the clear front covering of the eye (cornea) and iris (which may be thin or poorly developed). The pupil may be off-center or there may be multiple pupils. There is an approximate 50% lifetime risk of increased pressure in the eyeballs (glaucoma). Both eyes are almost always affected. Axenfeld-Rieger may be associated with distinctive facial appearance, teeth anomalies, redundant periumbilical skin (extra skin around the belly button), heart defects or other body issues.

What causes it?

Axenfeld-Rieger spectrum results from a gene mutation , including the genes PITX2 and FOXC1. It can be inherited from one parent only or it can happen by chance for the first time in that one person.

How do we treat it?

Genetic testing and counselling are important. If glaucoma is present, the goal is to reduce the pressure within the eyes using medications or surgery.  Eye examination every 6 months is important to detect the presence of glaucoma early.

URMC provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions   

Bardet-Biedl syndrome

What is it?

Bardet-Biedl syndrome  a genetic condition comprising retinitis pigmentosa (RP), intellectual impairment, kidney problems, extra fingers/toes, being overweight, and sometimes other things such as heart or liver problems. Patients can have one or more of these findings but the retinal problem is a constant usually with progressive night blindness and loss of peripheral vision, and  blurry central vision.

What causes it?

It can be caused by mutations in more than 20 different genes.

How do we treat it?

Primary treatment goals involve treating the specific symptoms. Diagnosis is usually based upon the identification of the characteristic findings. Genetic testing is important to confirm the diagnosis especially since several other conditions have similar findings. As in other inherited eye diseases, genetic counseling is recommended. Although there is no cure for the retinal effects, gene therapy and other possible treatments are under development.

URMC provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions  

Batten disease

What is it?

Batten disease is the term commonly used for a group of disorders called the neuronal ceroid lipofuscinosis, each of which goes by other names as well. These rare genetic disorders of the nervous system are characterized by vision loss, loss of thinking accuracy, clumsiness and issues with coordination, balance and movement. Eventually, children with this disease may lose some vision due to degeneration of the retina. Life length is often shorter.

What causes it?

The mutated genes do not produce the proper amounts of proteins important for the function of tiny bodies in the cells called lysosomes leading to the accumulation of chemicals which act as “poisons” to brain and retina cells.

How do we treat?

It is important to first make a gene diagnosis. Treatments are emerging for both the retina and brain problems in these disorders.

URMC is an internationally recognized center of excellence in treatment and research in Batten disease

Best disease

What is it?

Named after Dr. Best, this is an inherited  progressive degeneration of the macula (best retinal point for central vision),with typical onset in childhood. Affected persons may be without symptoms for many years.  Over time, there may be distortions in shapes and clarity of images. Some patients develop abnormal blood vessels that can bleed and suddenly decrease central vision.

What causes it?

Mutation in BEST1 gene is the primary cause. 

How do we treat?

Diagnosis is usually made on the basis of clinical examination, history and diagnostic testing, with genetic testing being used to confirm the diagnosis and provide genetic counselling. Comprehensive eye examination is done on a regular basis to monitor and treat any associated complication.  Injections into the eye may reverse vision loss due to abnormal blood vessels. Research is ongoing in the area of gene therapy which may lead to treatment in the future.

URMC provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions

Canalicular Laceration

What is it?
A cut across the inside corner of the eyelid that injures the tear-drainage duct.

How do we treat it?
A small plastic tube may be placed inside the tear duct to allow it to heal without scarring. The tube usually stays in place for 3-6 months and can be removed in the office.

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department


What is it?
A stye is a bump in the eyelid caused by a blocked oil gland. A hordeolum is a stye that is infected, red, and sore. A chalazion is a stye that is not red or painful. All three terms are sometimes used interchangeably.

What causes it?
Each eyelid has 20-30 oil (sebaceous) glands that produce an oily substance called sebum that helps to stabilize your tears. The glands open just behind your eyelashes. When the oils become thicker and drier, the gland’s opening becomes blocked and the oil backs into the eyelid.

Some of the bacteria that live on our eyelids will turn the oils into a thicker, wax-like substance.

Patients with a specific type of acne (rosacea) are more prone to styes, as well.

How do we treat it?

  • When recognized early, warm compresses can help melt the oils to allow the glands to drain properly. You can either use a hot, wet washcloth or microwave uncooked rice in a clean sock.
  • Lid scrubs can remove the crusting and debris at the base of the lashes that can contribute to styes. There are a number of over-the-counter lid wipes, or you can mix baby shampoo 50/50 with warm water and scrub the eyelids at the base of the eyelashes.
  • Diets high in omega-3 vitamins (fatty-fish like salmon and tuna, flax seeds, walnuts) or omega-3 supplements can improve the viscosity of the lid oils.
  • Your doctor may prescribe an eyedrop or ointment that includes an antibiotic or steroid to help with any infection or swelling.
  • Rarely, you may require an oral antibiotic if the stye ruptures and infects the lid skin, a condition called preseptal cellulitis.
  • If the stye does not go away with warm compresses or medication, a brief outpatient surgical procedure can be performed to make a small incision into the eyelid to remove the contents of the stye. 

URMC pediatric eye specialists are expert in managing chalazions and styes

Chemical Injury

What is it?
Splashes with household cleaners, bleach, or other chemicals that can damage the surface of the eye.

How do we treat it?
Seek immediate care at the emergency room or from your eye doctor. The surface of the eye is usually flushed to remove the chemical, and you may be given antibiotic eyedrops or ointment to help the eye heal.

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department


What is it?

This is a congenital abnormality in which there are missing pieces of tissues in the affected structures of the eye, namely the iris (colored part of the eye), choroid (the middle coat of the eye), retina (light-sensitive inner lining of the eye) and optic nerve (nerve which carries information from the eyes to the brain). Any combination can occur. Eyes with coloboma may be smaller (microphthalmia). Eye coloboma can occur in otherwise normal well children or may be associated with other problems such as developmental delay and/or abnormalities involving the kidneys, ears and heart.

What is the cause?

Coloboma  is a result of abnormal development in the eye, which may be due to changes in one of several different genes. If passed down in families, it can have different inheritance patterns.

How do we treat it?

Although there is no treatment to regrow the missing parts, treatment involves vision support, glasses when helpful, eye protection (especially when one eye is more affected), and screening for secondary possible problems such as retinal detachment or other body problems.

URMC provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions

Cone-rod Dystrophy

What is it?
The retina is the inner lining of the eye. It acts like film in a camera, taking pictures of the world. The two main vision sensing cells are rods and cones.  Rods are responsible for our vision in dim light and our peripheral vision. Cones see color and straight-ahead vision.

Cone-rod dystrophy (CORD) is a group of disorders which share in common an initial blurry of straight-ahead vision followed by changes in dim light and peripheral vision because the cone cells are affected earlier and more severely than the rods.

What causes cone-rod dystrophy?
CORD is a group of genetic disorders, each caused by an abnormality in a gene. Some of the common genes include.GUC1A1, ABCA4, and PITPNM3. Some patients may have other body problems such as problems with the enamel of teeth, skeletal abnormalities or anemia. CORD can have onset at different ages with different severity. It may be inherited in different ways through families or it can just start in one person with no family history.

How do we diagnose cone-rod dystrophy?
After a thorough eye examination and family tree review, many eye tests will be done to better diagnose CORD including electroretinogram (ERG), optical coherence tomography (OCT), fundus autofluorescence (FAF), color vision testing and more. This will lead to a specific diagnosis of CORD and then the causative gene can be found.

How do we treat cone-rod dystrophy?
Although there is no definitive treatment at this time, we and others are hard at work to develop two main types of therapy: gene therapy and stem cell treatment. In gene therapy, a benign virus carrying the correct copy of the gene is injected into the eye to deliver a new copy of the defective or repair or fix the broken gene. In stem cell treatment, new retinal cells are developed from a tiny biopsy of the patient’s skin, and after the gene defect is fixed in those cells, they can be put back under the retina to regrow the retinal connections. For many patients affected with CORD, hope for restored vision or prevention of further vision loss is becoming a reality.

At URMC we specialize in genetic disorders of the retina and other genetic disorders of the eye.

Congenital Cataracts

What is it?
A cataract is when the lens of the eye is cloudy. Cataracts can be so small that they do not affect vision.  Other cataracts cause more vision blur.

What causes it?
The most common cause of cataract is genetic (even when there is not a family history – it has to start somewhere). Another common cause is injury.  Less common causes are steroid use, radiation, or other body diseases such as metabolic disturbances.

How do we treat it?
When a cataract is causing a blur to vision, surgery is almost always needed, Smaller cataracts may require no treatment or may even be treated with drops to keep the pupil bigger and allow vision around the cataract. Surgery is an outpatient procedure. Depending on age, anatomy and size of the eye a child may or may not get a plastic lens implant to replace the focusing power of the natural lens which is removed during surgery. For patients/eye who are not eligible for an implant, contact lenses or glasses are used to rehabilitate vision. If the cataract is in only one eye, in the first decade of life, children will often need to patch their good eye to help “exercise” the cataract eye after surgery to help improve vision.

We specialize in treating childhood cataract at the Flaum Eye Institute

For more information see Dr. Levin's e-book at the Pediatric Glaucoma and Cataract Family Association

Congenital Glaucoma

What is it?
Every person’s eye makes fluid all day long. While it is being made it is also draining to keep the balance even (just like a sink with its drain). The drain of the eye is called the trabecular meshwork (or the angle).  This process is unseen to the outside observer. When the fluid cannot drain as quickly as it is being made, there is a backup of fluid leading to higher accumulated pressure in the eye. This situation is called glaucoma.

In babies and infants, this excess pressure caused the eye to grow larger, to get cloudy, and the child can get uncomfortable in bright lights with squinting and tearing.

What causes it?
Congenital glaucoma occurs because the draining meshwork of the eye in not formed properly due to genetic factors (even if there has never been a child in the family with glaucoma).

How do we treat it?
In general, this congenital glaucoma requires surgery to open the malformed drain. Medications to reduce the eye pressure (by reducing internal production of fluid or increasing drainage) may also be helpful either immediately leading up to surgery or more often, after surgery to help the operation be most effective.

Left untreated, glaucoma will lead to blindness by damaging the optic nerve (the nerve that carried the vision messages to the brain). In today’s world, with very good surgical and medicine treatments, the overwhelming majority of kids will retain excellent vision throughout their lives.

At URMC we specialize in the diagnosis and treatment of congenital glaucoma.

Corneal Abrasion

What is it?
A scratch on the front surface of the eye (cornea) can be caused by excessive eye rubbing, a foreign body, or a physical injury (for example, fingernail, toy, or stick). Even a small scratch can be very painful with tearing, redness, sensitivity to bright lights, and mild lid swelling. Luckily, the corneal surface heals quickly (24-48 hours) and there is usually no long-term scarring or vision loss.

How do we treat it?
Treatment is usually with antibiotic drops or ointment to prevent infection until the surface has healed. If the abrasion is large, your doctor may place a contact lens to act as a bandage until the surface heals.

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department

Corneal/Scleral Laceration

What is it?
A sharp injury or forceful blunt injury can cause a hole through the eyewall (cornea or sclera). This is called a ruptured globe or open globe. Long-term vision may be affected, depending on the extent of the injury inside the eye.

How do we treat it?
Microscopic surgical repair is required in the operating room to close the cut, and additional treatment may be required for glaucoma (high pressure), cataract (cloudy lens), or retinal detachment.

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department


What is it?
A blunt injury to the eye (for example, finger-poke, sports injury) causes blood vessels in the colored part (iris) to rupture and the front of the eye, where the pupil is located, can fill partially or completely with blood. The vision may be blurry until the blood clears. The pressure inside the eye may rise (glaucoma) to dangerous levels if the blood blocks the drainage system of the eye—this is a particular problem in patients with sickle cell disease.

How do we treat it?
Your doctor may recommend limited physical activities to allow the blood vessel to heal (the risk of high pressure is worse if the vessel re-bleeds), as well as eye drops to dilate the pupil and stabilize the iris blood vessels. Steroid and/or pressure-lowering drops may be needed. You can expect frequent examinations until the blood has cleared (usually 1-2 weeks).

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department

Juvenile Open Angle Glaucoma

What is it?
Every person’s eye makes fluid all day long. While it is being made it is also draining to keep the balance even (just like a sink with its drain). The drain of the eye is called the trabecular meshwork (or the angle).  This process is unseen to the outside observer. When the fluid cannot drain as quickly as it is being made, there is a backup of fluid leading to higher accumulated pressure in the eye. This situation is called glaucoma.

Juvenile Open Angle Glaucoma (JOAG) is a form of glaucoma that occurs in otherwise healthy people, usually with no other known eye problems, between the ages of 4 – 40 years old.

What causes it?
JOAG is caused by an abnormal gene. It runs in families in a fashion called Autosomal Dominant, which means that every person who has the disorder has a 50% chance with each child they have, regardless of gender, that the child will also have it. The age of onset can vary in family members. However, it has to start somewhere, so sometimes a person has JOAG as the first member of the family to have it.

Genetic testing can sometimes be helpful in identifying the abnormal gene and then using that information to identify family members at risk.

How do we treat it?
In children with JOAG, medications to reduce the eye pressure (by reducing internal production of fluid or increasing drainage) is usually the first step. If medications fail, surgery may be needed to open the drain or create a new drainage route for the fluid (e.g. a glaucoma drainage tube).

Left untreated, glaucoma will lead to blindness by damaging the optic nerve (the nerve that carried the vision messages to the brain). In today’s world, with very good surgical and medicine treatments, the overwhelming majority of children will retain excellent vision throughout their lives.

At URMC we specialize in the diagnosis and treatment of juvenile open angle glaucoma.

Juvenile X-linked retinoschisis

What is it?
Juvenile X-linked retinoschisis (JXLR) is a splitting of the layers of the retina, the tissue which lines the inside of the eyeball. The retina is like film in a camera. It takes pictures of the world and sends the images to the brain. Two thinks may happen to the retina in JXLR. Firstly, and most commonly, the retina can develop cyst-like spaces in the center of the retina, the part that is used for straight ahead vision (fovea and macula). This causes blurred vision. Secondly, the retina edges can become split and even detached. Hemorrhage in the eye sometimes results as well.

What causes it?
This disorder is caused by a mutation in a gene on the X chromosome.  Males get the disease and females are carriers.

How do we treat it?
The key to treating this disease is surveillance to recognize the signs of retinal detachment as sometimes full detachment can be prevented with laser treatment or surgery. Also, medications are available (eye drops or by mouth) to reduce the cyst-like spaces and possibly improve vision. Gene therapy is a very real possibility for the near future.

At URMC we specialize in JXLR and other genetic eye disorders in children and adults.


What is it?
Keratoconus is when the front transparent portion of the eye (cornea) becomes thin and protrudes assuming a cone shape. This is a progressive condition that affects both eyes but can be different severity or occur at different times in the two eyes. This condition usually progresses more rapidly in children and adolescents.

What causes it?
The cause of keratoconus is unknown although it is agreed that it is caused by multiple factors which are influenced by the environment and genetic factors. Frequent eye rubbing of the eye is an important factor in the development of some cases of keratoconus. In some patients, genetic factors alone make it happen.

Keratoconus occurs commonly in allergic eye conditions, patients with Down Syndrome, and patients with Leber congenital amaurosis, a congenital retina disorder. Patients with Ehlers-Danlos syndrome, osteogenesis imperfecta, floppy eyelid syndrome and sleep apnea are also prone to developing keratoconus.

How do we diagnose it?

Some of the most common symptoms include blurring, distortion, and light sensitivity, although if caught early visual acuity can be normal and the disorder is only noticed on routine eye examination or by the appearance of unusual astigmatism.

Patients that have high astigmatism (irregularity of the front surface of the eye) or need to change glasses often because of increasing glasses prescription should be screened for keratoconus. We perform a clinical examination (slit lamp examination) and imaging tests (corneal tomography, anterior segment OCT) to get more information, as in some cases subtle changes cannot be seen during our examination. In advanced stages protrusion, acute selling (Hydrops) and scarring of the front surface of the eye can be seen.

How do we treat it?

The goals of treatment are to help stop or slow down the progression of the disease and to help restore vision when possible. When glasses don’t improve vision different types of special contact lenses can be fitted. Cross linking is the treatment performed to slow or stop the progression of keratoconus as it makes the front surface of the eye more rigid.

Corneal transplant is usually reserved for severe cases when there is scarring or swelling of the cornea.

Our cross-disciplinary teams medically and surgically treat keratoconus

Lid Laceration

What is it?
Lid lacerations are cuts on the eyelid.

How do we treat it?
Depending on wound severity lid lacerations may require surgical repair. This may be done with sedation in the emergency room, or with an anesthetic in the operating room. In children, the sutures are usually absorbable and do not require removal.

Our expert providers are available to handle pediatric eye emergencies 24/7 at our clinical locations (normal business hours) and through the Strong Memorial Hospital Medicine Emergency Department

Leber Congenital Amaurosis

What is it?
Leber congenital amaurosis (LCA) describes a group of genetic disorders that result in poor vision due to retinal dysfunction starting at birth. The retina may have different appearances ranging from near normal to pigment clumping and other signs. Infants usually have shaky eyes (nystagmus) along with very blurry vision if not close to being blind, especially in dim illumination. Children are often farsighted but glasses do not do very much to help the vision because of the sick retina. Some children may have abnormalities in other body parts such as the kidneys or brain.

What causes LCA?
Each form of Leber congenital amaurosis is caused by a gene mutation. Most often, there is a mutation in each copy of the disease inherited one from each parent. Parents, who are carriers, have no symptoms. The child has one mutated gene from each parent and is therefore affected, as siblings may be as well.

How is the diagnosis of LCA made?
When a baby is suspected to have LCA, a test of retinal function is usually done, such as an electroretinogram (ERG) and/or optical coherence tomography (OCT). Gene testing is then performed to find the exact gene form of LCA.

How do we treat LCA?
Today, gene therapy is available for one form of LCA (due to mutations in the gene called RPE65). The treatment is called Luxturna and is only available at certain places around the world. Other forms of gene therapy are under development. In gene therapy, the gene defect in the retina in fixed by an injection under the retina.

Flaum Eye Institute specializes in Leber Congenital Amaurosis and is one of 12 designated Luxturna treatment sites in the United States

Morning Glory Anomaly

What it is?

Morning glory anomaly is a rare congenital malformation of the optic nerve named for its resemblance to the morning glory flower. When associated with systemic signs and symptoms, it is known as morning glory syndrome. It is more common in Morning Glory Discfemales and rarer in African-Americans.

Morning glory anomaly can be associated with transsphenoidal basal encephalocele, which is a congenitally malformed outpouching of the meninges (membranes that cover the brain), that can protrude through a defect in the sphenoid bone. It is also associated with cerebrovascular anomalies, including hypoplasia of the cerebral arteries and a disease called Moyamoya which is constriction of certain blood vessels in the brain.

What causes it?

The cause of this optic nerve anomaly is largely unknown. It is most likely due to a failure of the proper formation of the optic nerve structure. A genetic cause has yet to be figured out.

How do we diagnose Morning Glory anomaly?

A simple eye examination can visualize the optic nerve to allow for the diagnosis. Ultrasound of the optic nerve is sometimes useful.  Brain imaging with specific attention to the blood vessels (MRI, MRA and/or CTA) should be done to rule out central nervous system involvement. Dilated fundus exams should be done to detect serous retinal detachments and intravenous fluorescein angiography considered to look for incomplete retina blood vessel supply (peripheral non-perfusion).

How do we treat Morning Glory anomaly?

There is no treatment for morning glory disc anomaly, and vision is often quite good, but it is important to optimize visual acuity to prevent amblyopia and treatment of fluid under the retina or non-perfusion can be useful.

Our cross-disciplinary teams expert at diagnosing morning glory and managing any associated complications

Neurotrophic keratitis

What is it?

Neurotrophic keratitis is a disease in which there is decreased or absent sensation of the front surface of the eye (cornea). A normal cornea has a higher sensitivity when compared to any other part of the body. When there is decreased sensation of the cornea, there is a decrease of the blinking and tearing reflex, leading to a cornea becoming dry and possibly scarred.

What causes it?

The absence of corneal sensation nerves can be congenital or acquired through many different causes. The cornea is innervated by the trigeminal nerve. Neurotrophic keratitis can occur if the trigeminal nerve is damaged by any disease anywhere along its course.

In general chronic states of inflammation in the ocular surface, chemical traumas, surgeries,  and chronic use of some eye drops have been reported as a cause of a neurotrophic keratitis. Viral infections like herpes simplex and herpes zoster can also be a cause.

How do we treat it?

Lubrication with preservative-free artificial tears and ointment of the eye is essential and usually the first treatment to try to keep the cornea moist. Sometimes medications are used to decrease inflammation and try to help the cells from the ocular surface stay healthier. Newer medications have been developed for this condition to help regrow nerves in the cornea.

Surgical procedures are sometimes needed. These include corneal glue to treat small perforations or areas of thinning, temporary or permanent lid closure, amniotic membrane transplantation, or procedures to block the tear drainage from the surface of the eye.

Flaum Eye Institute specializes in the diagnosis and treatment of neurotrophic keratitis.


What is it?

Neurofibromatosis is a type of disease family called Phacomatosis. There are two subtypes of neurofibromatosis, neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2), the two disorders are distinct and reside on different chromosomes.

What causes it?
It is an inherited disease with up to 50% of NF1 cases are inherited as an autosomal dominant. The remainder of cases are new mutations in the NF1 gene located on chromosome 17.

What are the ocular symptoms of NF1?
Lisch nodules are the most common ocular manifestation which are small (<1-2 mm), dome-shaped, tan-dark brown pigmented lesions on the iris, they usually do not cause symptoms and tend to appear in late childhood.

Optic pathway tumors (e.g., gliomas) are common in NF1 patients. Tumors can be isolated to a single optic nerve, or bilaterally and affect other parts of the brain. Common symptoms in patients with an optic pathway tumor include decreased vision, loss of color vision, visual field defects, protrusion of the eye and/or eye deviation (strabismus).

Plexiform neurofibromas are other lesions seen in patients with NF1which are benign skin tumors that can involve the eyelid, eyebrow, orbit, and the temple, they are soft and feel like “a bag of worms”.

NF1 patients are at an increased risk of developing glaucoma (high pressure inside the eye).

What are the ocular symptoms of NF2?
Ocular manifestations are much less common in NF2 than NF1. Optic nerve sheath meningiomas, which are abnormal growths affecting the covering of the optic nerves (meninges), are characteristic tumor type seen in NF2. Other common findings include cataracts, retina lesions called hamartomas, strabismus, lazy eye, and eye movement abnormalities.

Bilateral vestibular schwannomas which are abnormal growths of the eighth cranial nerves can occur and affect adjacent cranial nerves like fifth, sixth, or seventh nerves and cause dysfunction that can produce ocular symptoms and signs (e.g, facial numbness, pain and double vision).

How do we treat the ocular manifestations associated with NF1?
Children with NF1 are recommended to have regular evaluations by an ophthalmologist every year to look for optic pathway tumors by checking the vision, visual fields, and color vision. MRI of the brain and orbit is indicated if visual abnormalities are detected.

Lisch nodules do not require treatment because they do not affect vision.

Optic pathway tumors that cause progressive visual loss may be treated with chemotherapy or radiotherapy.

Surgical removal of benign plexiform neurofibromas is often extremely challenging because of the location of the tumors and their being highly vascular.

Flaum Eye Institute provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions including neurofibromatosis


What is it?
Nystagmus is an abnormal rhythmic (shaking) eye movement with a slow eye movement driving the eye off the target followed by a second movement that brings the eye back to the target. The movement can be horizontal, vertical, torsional or a combination of these movements. There are many types of nystagmus some are present from infancy but usually recognized a few months into life or even years and others are acquired later. Most of the time it is involving both eyes but sometimes only one eye is affected. Some are only seen when covering the other eye (latent nystagmus) and can be associated with strabismus (eye deviation).  

What causes it?
Some nystagmus types are associated with eye or brain diseases, but others can occur without a known cause. Some toxins and medications like anti-seizure medications and ethanol can cause nystagmus.

How do we treat it?
Options for treating nystagmus can vary from observation, using some medications, Botox injection to aggressive surgeries depending on the nature and cause of the nystagmus in addition to treatment of the underlying causes.

Our cross-disciplinary teams medically and surgically treat nystagmus

Optic Nerve Hypoplasia

What is it?
Optic nerve hypoplasia (ONH) is characterized by a smaller than normal optic nerve. It can be unilateral or bilateral and can be an isolated anomaly or associated with other midline brain structural defects. Septo–optic dysplasia (a version of which is called de Morsier syndrome) is a disease where optic nerve hypoplasia is associated with absence of septum pellucidum (a thin membrane located in the middle of the brain) and/or agenesis of corpus callosum (which is responsible for sending information between the two halves of the brain). It is the 3rd most prevalent cause for vision impairment in children less than 3 years of age.

What causes optic nerve hypoplasia?
Young maternal age, maternal diabetes, and being a first-born child have been associated with optic nerve hypoplasia. Additionally, preterm labor, vaginal bleeding during pregnancy, low maternal weight gain, infection during pregnancy and maternal weight loss during the first and second trimesters increase the risk of optic nerve hypoplasia. Genetic abnormalities can also be the cause. Several genes have been identified which when mutated can result in this disorder.

How do we diagnosis optic nerve hypoplasia?
ONH can be diagnosed on eye examination. Additional information can be gained from ultrasound. MRI is used to evaluate both the optic nerves and the brain, in particular the pituitary gland which is sometimes abnormal. Endocrinology consultation (hormone specialist) can be useful to check for hormone irregularities. Thyroid function studies are important (blood test).

How do we treat it?
There is no treatment to make the optic nerve larger or recreate the brain structures. Therefore, management is directed at monitoring vision through routine eye exam and monitoring growth patterns.

Our cross-disciplinary teams diagnose and monitor optic nerve hypoplasia

Peters Anomaly

What is it?
Peters anomaly is a genetic eye disorder present at birth in which there is an opacity in the clear front covering portion of the eye (cornea) over the pupil. In most cases both eyes are affected although severity can vary between the eyes, and sometimes only one eye is affected. The opacity can vary in size from a small opacity to a larger opacity involving the whole front portion of the eye. The bigger and more central the opacity the more it affects vision.

The normal clear lens can sometimes be affected and an opacification of the lens (cataract) can be seen. There is a high risk of developing high pressure in the eye (glaucoma) in about 50-70%. This can be present at birth or develop over time.

Other eye problems can be found in patients that have Peters anomaly. These include a smaller eye (microphthalmia), detachment of the inner layer of the eye globe (retinal detachment), and abnormalities of the optic nerve or blood vessels in the eye.

Other body problems can occur such as congenital heart problems or brain abnormalities. When these problems follow a recurring pattern, it is called a syndrome. One example is Peters Plus syndrome when Peters anomaly is associated with cleft lip and palate, short stature, abnormal ears and developmental delay. Peters anomaly can occur with other body problems as well.

What causes Peters anomaly?
Peters anomaly can be inherited from a parent but most commonly starts in one person of the family. Evaluating the eyes of family members can be helpful in many cases. Some of the genes that could be defective include PITX 2, FOXC1, CYP1B1, PAX6, FOXE3 or others. Peters Plus syndrome is due to a problem with a gene called B3GLCT.

How do we diagnose Peters anomaly?
In most cases besides the eye exam we have to do certain imaging tests under anesthesia to be able to see the extent of the disease, such as special ultrasound tests.  Genetic testing is very helpful in diagnosing Peters anomaly. Evaluation of heart and brain is recommended. Genetic testing can also discover if there is risk of other members in the family being born with Peters.

How do we treat Peters anomaly?
This disorder is often managed by a team of multiple doctors who specialize in a variety of subspecialties: genetics, pediatric ophthalmology, cornea, cataract and glaucoma.  

In certain cases when it’s a small opacification and the lens in the eye is clear, dilating the pupil with drops can be an option or surgery of the color portion of the eye (iris) can be performed (optical iridectomy). Both are designed to allow the patient to see around the cornea scar.

A cornea transplant involves removing the scarred part of the cornea and replacing it with a donor’s cornea. The lens may need to be removed and when the pressure is high (glaucoma) surgery may also be needed.

Patients are followed very closely. Glasses and patches are often required and attention must be paid to visual development.Frequent visits are required for screening and treatment of different problems that are mentioned above.

At URMC we specialize in the diagnosis and treatment of corneal problems in children, including Peters anomaly.

Retinitis Pigmentosa

What is it?

Retinitis Pigmentosa (RP) is a group of genetic degenerative eye disorders in which the back inner wall of the eye (retina) is slowly and progressively damaged over time. Patient typically experience a loss of night vision, then peripheral vision (causing eventual “tunnel vision’’) and later in the disease, blurring of central vision. RP can have its onset from birth to old age, progress slowly or rarely more rapidly, pass through families in different ways, and may also be associated with other affected parts of the body such as hearing problems, extra fingers or toes, kidney abnormalities or developmental delay. Total blindness is an uncommon outcome.

What causes it?

Many different genes when mutated can cause RP. RP may be inherited in a family, caused by carrier parents, or even start in one person.

How do we treat it?

Ongoing research strongly suggests that gene therapy and, later on, stem cell treatment may positively influence the course of RP to prevent vision loss and/or restore vision. Clinical trials are underway for several types of RP. For one gene type of RP, there is currently treatment available (Luxturna) and URMC is a designated treatment site. Patients should wear sunglasses outdoors, avoid smoking or second hand smoke, and, as needed, avail themselves of low vision services, vocational counseling, and mobility training. To gain access to treatment trials, it is important to have a confirmed genetic diagnosis


What is it?
Strabismus is the term for a misalignment of the two eyes. An eye may turn in (esotropia), turn out (exotropia), or sit higher or lower (hypertropia).

Strabismus may cause amblyopia (lazy eye) in children, or double vision in adults. Patients with strabismus may experience uneasiness in social situations.

What causes it?
There are many causes of strabismus, some related to serious visual or medical conditions. All of the underlying causes lead to an imbalance in the strength of the muscles that control eye movement.

  • Focusing: Accommodative esotropia is an eye crossing that begins at 1-3 years old and is due to a large amount of far-sightedness.
  • Eye Muscles: There are six eye muscles that move the eyes (in/out, up/down, tilt). The muscles may become stiff in thyroid-related and other diseases or be injured with trauma.
  • Nerve-Muscle connection: Myasthenia gravis is a disease with a blockage in the nerve-muscle connection and can cause the muscles (of the eye and body) to be weak.
  • Cranial Nerves: There are three nerves from the brain that control the six eye muscles. Disease or injury to these nerves will cause typical patterns of strabismus.
  • Brain: Planning and coordination of eye movements is controlled by connections throughout the brain. Abnormal eye movements can result from interruption of these connections.

Most of these causes can be diagnosed with a thorough office examination. Additional testing may include blood tests, imaging of the brain and eye muscles (MRI or CT scan), or specialized nerve testing.

How do we treat it?

  • Glasses- Strabismus may be treated with glasses to improve focusing. Prism may be placed in glasses to help correct small turns that cause double vision.
  • Medicine- Some forms of strabismus may be treated with medications, including some types of thyroid disease and myasthenia gravis
  • Surgery- Surgery can be performed to strengthen or weaken any of the six eye muscles to improve the alignment.

Our cross-disciplinary teams medically and surgically treat juvenile and adult strabismus

Traumatic Iritis

What is it?
Inflammation that is usually the result of a blunt injury to the eye. It causes blur, light sensitivity, redness, that usually resolves in 1-2 weeks.

How do we treat it?
Your doctor may recommend steroid eyedrops and/or drops to dilate the pupil.

Our pediatric inflammatory eye disease specialists routinely treat all forms if iritis and uveitis

Tuberous sclerosis

What is it?
Tuberous sclerosis (TS) is a type of disease family called Phacomatosis, it is a genetic disorder that commonly involves the brain, skin, kidneys, heart, eyes, and lungs.

What are the ocular symptoms of TS?
The characteristic finding in TS is a lesion called retinal astrocytic hamartoma. These are benign lesions occur in up to 50% of patients, and they usually do not affect the vision unless involving the macula or optic disc.

Other ocular manifestations of TS are “punched out” areas of retinal depigmentation, colobomas, and iris pigment abnormalities.

How do we treat the ocular manifestations associated with TS?
Retinal astrocytic hamartomas can be monitored with an ophthalmologic evaluation every year if they are not causing visual loss.

TS patients with intractable seizures who are using vigabatrin are recommended to have close ophthalmologic evaluations due to risk of retinal abnormalities and visual loss.

URMC provides the most compassionate and comprehensive care for patients with genetic and developmental eye conditions   

Usher syndrome

What is it?

Usher syndrome is a genetic  condition involving retinitis pigmentosa (RP) and hearing loss (partial or profound). It is the most frequent cause of deaf-legal blindness in the developed world. Some patients also develop balance issues.

What causes it?

Many genes when mutated can cause this condition. Most often, both parents are carriers of an abnormal gene and each contribute their one abnormal gene to the affected child who then has two abnormal copies.

How do we treat it?

Genetic testing and counselling are important in determining plans for managing the hearing, balance and vision problems. Gene therapy trials are currently underway for some forms with more to follow.

At URMC we specialize in the diagnosis and care for Usher syndrome. We are actively involved in research to develop an deliver gene therapy to preserve or perhaps restore vision.


What is it?
Uveitis is a term that describes inflammation inside the eye. There are different forms. Iritis (anterior uveitis) is when the inflammation is in front of the pupil. Pars planitis (intermediate uveitis) is inflammation of the area just behind the colored part of the eye (the iris). Vitritis is inflammation of the vitreous gel that fills the inside of the eye behind the pupil. Retinitis and choroiditis are inflammations of the inner linings of the eyes. Papillitis is inflammation of the optic nerve.  When the inflammation involves two or more areas it is referred to as panuveitis. Iritis is by far the most common type.

What causes it?
Uveitis can be caused by infection, trauma, leukemia and diseases of the body such as when the body attacks itself (autoimmune disease). In children, the most common cause of iritis is juvenile idiopathic arthritis (JIA) although in 10% the eye inflammation occurs before the joint problems. Most patients will get a work-up including blood tests, chest X-ray, and urine tests looking for the cause of uveitis. Sometimes, no cause can be found. The doctor will also ask questions about pets (especially cats and dogs), travel, and other body symptoms that might be clues.

How do we treat it?
The initial treatment of uveitis is oriented towards treating any underlying disorder and at the same time applying steroid drops to the eye. This is sometimes accompanied by a drop to dilate the pupil and prevent scar tissue formation. Steroids by injection or by mouth may be needed.  Stronger systemic treatments by injection or intravenous infusion are also used in some cases. Complications of uveitis may require surgery such as glaucoma, cataract, retinal changes or deposition of calcium on the front of the eye (band keratopathy)

At URMC we specialize in pediatric uveitis and iritis.