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Occular Genetics

Genetic eye disease is one of the leading causes of blindness and includes disorders such as retinitis pigmentosa, Stargardt disease, hereditary optic neuropathy, pediatric cataracts, pediatric glaucoma, albinism and others.


The goal of the Caribbean Retina Consulting physicians is to ensure accurate diagnosis including appropriate testing and access to upcoming cutting edge treatments.
We hope that each patient will fully understand their disease and have a clear pathway for the next steps in management including full counseling about the inheritance pattern, reproductive options, etiology, support groups, low vision intervention and current treatment trials. We see adult and children patients who have ocular genetic disease and also patients with a wide variety of genetic disorders, which affect other areas of the body along with the eye (e.g. neurofibromatosis, mitochondrial disorders, Marfan syndrome).


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.


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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