Genetic Eye Diseases

New York Eye and Ear Infirmary of Mount Sinai (NYEE) offers the newest treatments for a wide range of genetic eye diseases in children, including the following:

Childhood Cataracts

A cataract is a clouding of the clear lens of the eye, which focuses light on the retina at the back of the eye, resulting in blurry or diminished vision. Cataracts are rare in infants and children. They are usually detected at birth or during regular medical check-ups in the child’s first months. Childhood cataracts often have genetic roots, but can also result from an infection during pregnancy, trauma to the eye, diabetes, metabolic diseases, or low birth weight.

Because a baby’s vision develops quickly, early detection and treatment of cataracts is essential to ensuring your child’s sight will progress normally. If untreated, cataracts can lead to strabismus (misalignment of the eyes) and other complications down the road.

Your child’s pediatrician should screen for this condition during routine exams. There are several telltale signs, however, that can alert you to cataracts, including the following:

  • The pupil of the eye appears white rather than clear.
  • The glare from a cataract may cause your child to squint or shield their eyes when exposed to bright sunlight.
  • Your baby’s eyes don’t seem to be responding to and tracking objects as they should in the early months.
  • Wandering eye movements or repetitive, jerky eye movements may indicate a later-stage cataract condition known as nystagmus.

How are Childhood Cataracts Treated? 

New York Eye and Ear Infirmary has one of the busiest and most advanced pediatric eye centers staffed by physicians with years of experience treating cataracts in children, as well as sub-specialists who are on-site and prepared to handle any other conditions involving your child’s eyes.

Children born with large, dense cataracts will typically require surgery within the first six to eight weeks of life to avoid permanent vision loss. If the cataract is smaller and not causing significant vision loss, eye drops that dilate the pupil and allow additional light to enter the eye may be helpful, though surgery will probably be required in the future.

Pediatric Glaucoma

As with adults, childhood glaucoma causes increased intraocular pressure within the eye, which, if not detected and treated, can cause significant and permanent optic nerve damage and vision loss. About one in 10,000 children are born with congenital glaucoma, which results from abnormal development of the eye’s drainage system. This, in turn, causes fluid build-up within the eye, elevation of the eye pressure, and damage to the optic nerve. Parents are often the first to notice this condition through warning signs like their child’s sensitivity to light, refusal to open the eyes, and excessive tearing. Other indicators are eyes that look bigger than average and corneas that appear hazy.

Other forms of childhood glaucoma are juvenile glaucoma, which develops in children between the ages of 4 and 10, and juvenile open-angle glaucoma (JOAG), which refers to the onset of glaucoma in individuals between the ages of 10 and 35. The latter condition has a strong genetic link and is often silent until it has progressed to advanced stages. 

How is Pediatric Glaucoma Treated?

New York Eye and Ear Infirmary of Mount Sinai (NYEE) maintains one of the most advanced centers in the Northeast for diagnosing and treating the various forms of pediatric glaucoma, sometimes in infants only days old. Among the advantages we offer are a multidisciplinary approach, which, in more complex cases, involves a full range of pediatric eye care specialists, as well as extensive NYEE inpatient and outpatient services.

Our highly experienced, board-certified ophthalmologists typically use a combination of medications to initially lower intraocular pressure followed by surgery to restore the normal outflow of fluid from the eye. A procedure known as trabeculotomy is often performed to open up the normal drainage channels and lower the pressure within the eye. Surgeons at NYEE have further improved the efficiency and safety of the procedure by using flexible, illuminated micro-catheters, a technique performed in only a few eye centers nationwide.

Following glaucoma surgery, regular visits to the ophthalmologist are essential to closely monitor the condition and any changes in vision or eye function. For children under the age of 10, visual rehabilitation with eyeglasses and patching (when appropriate to strengthen a “lazy eye”) are also important to achieving the best visual outcome. The encouraging news for parents is that with timely treatment and aggressive follow-up, the prognosis for children with glaucoma is better today than ever before.

Pediatric Retinal Disease 

As a large teaching and referral center, New York Eye and Ear Infirmary is widely known for its skilled care of pediatric retinal problems. These range from retinal detachments and severe eye trauma to inherited and acquired congenital disorders. Since children with retinal disorders often experience multiple eye conditions, we are prepared through our collaborative teams of sub-specialists to ensure the best possible outcomes while minimizing the number of procedures young patients must undergo.

Among the major pediatric retinal conditions we treat are:

  • Retinopathy of Prematurity (ROP), which occurs in premature babies born without fully developed (vascularized) retinas. This can lead to retinal detachment and blindness if not properly detected and treated. Premature babies are carefully screened today in hospital nurseries for ROP. When detected, the vast majority of cases are not considered severe enough to require treatment. In the most advanced cases, laser therapy is used to repair the detached retina. Some children may be given an anti-vascular endothelial growth factor (VEGF) injection in the eye, which decreases inflammation and the growth of abnormal blood vessels in and around the retina.
  • Inherited and congenital retinal disorders, which includes hundreds of inherited and congenital syndromes and dystrophies that can lead to retinal problems in children. The most common disorders which our specialists are skilled at treating include retinitis pigmentosa, a group of inherited disorders that affect the retina’s ability to respond to light, and which can result in a slow loss of vision; Stargardt disease, the most common form of inherited juvenile macular degeneration characterized by gradual vision loss from the death of cells in the central part of the retina; Leber congenital amaurosis, an inherited retinal degenerative disease marked by severely reduced vision at birth; and retinoschisis, a genetic condition where the retina splits into layers, resulting in diminished central and peripheral vision. Treatment of inherited and congenital retinal disorders typically involves continuous monitoring and therapeutic steps to preserve as much of the child’s vision as possible.
  • Retinal tumors, which are extremely rare growths that can be successfully treated if picked up early. Retinoblastoma is the most common type of pediatric cancerous tumor we see. NYEE not only has years of experience diagnosing and detecting retinoblastomas, but working closely with our pediatric oncology colleagues and other systemic specialists at Mount Sinai Health System to aggressively treat and monitor children with this condition.


Coloboma is a largely genetic condition in which tissue is missing from birth in various parts of the eye. This abnormality may affect one or both eyes. A coloboma that affects the iris (the colored part of the eye) is quite noticeable due to the “keyhole” appearance of the pupil. Fortunately, it does not normally trigger vision loss. An eyelid coloboma displays as a notch or defect in the eyelid. A child with a coloboma of the macula (the part of the retina responsible for our central vision) or the optic nerve will likely experience reduced vision that can’t be completely corrected with eyeglasses or contact lenses. If the coloboma affects the retina, the child will have loss in a specific field of vision, such as the upper part.

In some children, a coloboma may indicate other eye disorders, such as pediatric cataracts, glaucoma, retinal detachment, or nystagmus (involuntary, jerky movements of the eye).

How is a Coloboma Treated? 

Your ophthalmologist will guide you in treating and managing the condition based on what part of the eye structure is affected. An iris coloboma, for example, may be treated cosmetically by wearing colored contact lenses. Surgery may also be recommended to improve the appearance of the iris. If a coloboma affects only one eye, your ophthalmologist may opt to patch the unaffected eye or use eyeglasses to try and prevent amblyopia (lazy eye) from developing. 

Microphthalmia and Anophthalmia 

Microphthalmia is a condition that arises in utero, where one or both eyeballs are abnormally small. In some cases, the eyeball appears to be completely missing, a condition known as anophthalmia, though some eye tissue usually remains. These are actually completely different conditions anatomically, and therapy may be different based on visual potential.

Genetic mutations and abnormal chromosomes may trigger these ocular defects. Some researchers believe environmental factors like exposure to x-rays, chemicals, drugs, pesticides, radiation, or viruses may also play a role.

Children born with microphthalmia may also have coloboma (missing pieces of tissue from various parts of the eye). Other disorders associated with microphthalmia are cataracts and microcornea, where the cornea (the clear, protective covering of the eye) is unusually small and curved.

How are Microphthalmia and Anophthalmia Treated? 

Children with microphthalmia may have some residual vision, which affords limited sight. In these cases, an ophthalmologist may recommend patching the good eye to strengthen vision in the eye with microphthalmia. In addition, the child can be fitted for a prosthetic eye for cosmetic purposes.

Optic Nerve Hypoplasia 

Optic nerve hypoplasia (ONH) is a hereditary disorder characterized by underdevelopment (hypoplasia) of the optic nerves, which transmit visual signals from the retina of the eye to the brain. This condition is diagnosed by an eye specialist through an ophthalmoscopic examination of the eye.

Vision impairment for a child with ONH may range from slight to severe, and may affect one or both eyes. Other conditions associated with ONH are nystagmus (involuntary jerky eye movements) and strabismus (inward or outward turning of the eyes). Children with ONH may also have central nervous system malformations, which put them at risk for seizures, learning disabilities, and developmental delays. Many children also have hormone deficiencies, which can affect growth, energy, and sexual development and should be referred to a pediatric endocrinologist. ONH is usually a stable and nonprogressive condition. Over time, the child’s vision may improve slightly.

There are no current treatments for optic nerve hypoplasia.

Pediatric Ptosis 

This condition is easily noticed in a child by a drooping of the upper eyelid of one or both eyes. Congenital ptosis is often hereditary, present at birth, and caused by poor development of the muscle that lifts the eyelid, called the levator. The droopiness of the lid may be slight, or it may cover most of the pupil, thus blocking normal vision. Not surprisingly, children with ptosis may tilt their head back to try and see underneath their eyelids.

Because ptosis changes the dynamics of the child’s vision, it can lead to amblyopia (“lazy” eye), which results in poor vision when one eye is not used sufficiently. If not treated, it can also lead to permanent vision loss. Astigmatism (blurry vision from a misshapen cornea) is also associated with ptosis.

How is Ptosis Treated? 

Surgery can often correct the problem by tightening the levator. If amblyopia develops, your ophthalmologist may also recommend patching to force the “lazy” eye to become more active. Eyeglasses and eyedrops may also be used. Your ophthalmologist will advise you on the most appropriate treatment.