Which Types of Eye Disease Are Inherited?

    • Genes play a role in many types of eye diseases affecting individuals of all ages.
    • Among infants, 60 percent of cases of blindness are caused by inherited eye diseases including congenital cataracts, congenital glaucoma, eye malformations and many more.
    • Even common vision problems can be inherited, according to ophthalmologic experts, such as strabismus or cross-eyes, lazy eye or amblyopia (lazy eye) and refraction errors like nearsightedness.

Genetic eye disorders affect the gene’s ability to do its job properly. Many kinds of eye disease often result from genetic factors including those that cause blindness in infants, children and adults.

Which types of eye disease are genetically determined?

Inherited eye diseases such as congenital (present at birth) cataracts, congenital glaucoma, retinal degeneration, optic atrophy and eye malformations cause blindness in over 60 percent of cases among infants. For patients with strabismus (ocular misalignment), up to 40 % have a family history of the disease.

Vision loss among adults is mainly caused by glaucoma and age-related macular degeneration, both of which are deemed genetic in most cases. Researchers are now starting to identify the genes responsible for macular degeneration as well as retinitis pigmentosa, a degenerative disease affecting the retina that leads to night blindness and gradual blindness.

 Are common vision problems also inherited?

Yes. Actually strong evidence found by genetic ophthalmologic researchers indicated that genetics contribute to common vision problems. Such problems include: strabismus (cross-eyes), amblyopia (lazy eye) and refraction errors like myopia (nearsightedness), hyperopia (farsightedness) and astigmatism.

Can eye abnormalities be linked with other diseases?

Often, the presence of a particular ocular irregularity related to a systemic disease is the determining factor for diagnosing that disease. For instance, a dislocated lens in the eye usually indicates Marfan syndrome, an inherited connective tissue disorder linked to heart problems, or a cherry red spot in the eye that is often associated with Tay-Sachs disease.

If diagnosed early, can inherited eye diseases be fixed?

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If genetic eye disease is suspected, you or your child can be referred to the Cleveland Clinic’s Center for Genetic Eye Diseases at the Cole Eye Institute, one of the world’s most advanced eye centers, to undergo specialized evaluation, testing and diagnosis. For patients with systemic genetic diseases, specialists at the Cole Eye Institute will work closely with other experts in other areas to provide effective ophthalmologic therapies.

What happens during an evaluation?

Initially, a genetic eye disease expert will work with you to provide a diagnosis then schedule follow-up examinations and an appropriate treatment for that diagnosis. Steps involved are listed below: 

  • Patient history: A thorough review will be done on past and current medical records and test results performed either at the Cleveland Clinic or at another facility.
  • Family history: You will be asked to construct your family tree that show genetic relationships and identify family members who may be affected with similar medical disorders.
  • Comprehensive eye and vision examinations

Patients need to undergo clinical eye tests that include:

  • Slit-lamp, which uses a microscope to look at different parts of the eye
  • Eye-pressure check
  • Dilation which uses eye drops to dilate the pupils for the eye doctor to examine the health of the retina.

Based on the results of the eye examination and assessments of the general medical history, both the ophthalmologist and the referring physician will formulate a diagnosis and therapy.

Ophthalmologists at the Center are highly skilled in diagnosing and offering advice on the treatment of genetic eye diseases. They also invite other Cleveland Clinic Cole Eye Institute specialists for consultation or for a second opinion whenever additional expertise regarding particular eye problems is needed.

Source: Cleveland Clinic