Which types of eye disease are inherited?

Genetic factors play a role in many kinds of eye disease, including those diseases that are the leading cause of blindness among infants, children and adults.

More than 60 percent of cases of blindness among infants are caused by inherited eye diseases such as congenital (present at birth) cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations. Up to 40% of patients with certain types of strabismus (ocular misalignment) have a family history of the disease and efforts are currently under way to identify the responsible genes.

In adults, glaucoma and age-related macular degeneration are two of the leading causes of blindness, and both appear to be inherited in a large portion of cases. Researchers have mapped several genes for glaucoma and are starting to identify genes involved in macular degeneration. They also are making very significant progress in identifying the genes that cause retinitis pigmentosa, a degenerative disease of the retina that causes night blindness and gradual vision loss.

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Can common vision problems be inherited?

Genetics also play a role in vision problems that occur in otherwise healthy eyes. Genetic ophthalmologic researchers now have evidence that the most common vision problems among children and adults are genetically determined. The list includes strabismus (cross-eyes), amblyopia (lazy eye) and refraction errors such as myopia (nearsightedness), hyperopia (farsightedness) and astigmatism.

Can eye abnormalities be caused by other diseases?

Eye abnormalities are present in one-third of inherited, systemic diseases. The presence of a particular ocular sign known to be associated with a systemic disease often is the deciding factor in confirming the diagnosis of that disease. For example, a dislocated lens in the eye can confirm a diagnosis of Marfan syndrome, a connective tissue disease associated with heart problems; a characteristic cherry red spot in the eye usually indicates Tay-Sachs disease.

Can inherited eye diseases be corrected if an early diagnosis is made?

Physicians in the Center for Genetic Eye Diseases at the Cole Eye Institute work closely with specialists in the Medical Genetics Program and other services at the Cleveland Clinic to provide early diagnosis and effective treatment for complications of inherited eye disorders. They also provide evaluation and treatment for patients referred to the Center from community physicians.

Your ophthalmologist, pediatrician, geneticist or family doctor may refer you or your child to the Center for specialized evaluation, testing and diagnosis if a genetic eye disease is suspected. The Cole Eye Institute and the Center for Genetic Eye Diseases are part of the world-class Cleveland Clinic, which includes more than 750 physicians practicing in more than 100 specialties. For patients with systemic genetic diseases, Cole Eye Institute specialists work closely with experts in other areas to integrate ophthalmologic treatment into the patient’s total care plan.

What can I expect during an evaluation?

When you or your child is referred to the Center, a genetic eye disease specialist will work with you to diagnose the problem and plan follow-up and possible therapy.

The first step is a complete review of any medical records or test results available, whether performed at the Cleveland Clinic or at another institution. Next, you will be asked about your personal and family medical history, with particular attention given to signs and symptoms of genetic disorders. After this is complete, you will be asked to assist in drawing your family tree and identifying other family members who may be affected with similar problems.

Patients undergo a comprehensive assessment of vision and eye movement, a slit-lamp examination for microscopic study of the eye, and an eye-pressure check. By using eye drops to dilate the pupils, the ophthalmologist can examine the lens, optic nerve and retina for abnormalities.

Using information from the eye examination and the general medical history and examination, the ophthalmologist and the referring physician together determine a diagnosis and treatment plan.

Center ophthalmologists have the expertise to diagnose and offer advice on the treatment of genetic eye diseases. When additional expertise in specific eye problems is required, they call on other Cleveland Clinic Cole Eye Institute specialists for a second opinion or consultation.