Congenital Eye Conditions

What types of eye diseases are inherited?

Genetic factors play a role in many types of eye diseases, 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 hereditary eye diseases such as congenital (presence 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 being made to identify the responsible genes.

They also make very significant progress in identifying the genes that causeretinitis pigmentosa, a degenerative retinal disease that causes night blindness and gradual loss of vision.

Genetics also plays a role in vision problems that occur in otherwise healthy eyes. Genetic ophthalmological researchers now have evidence that the most common vision problems among children and adults are genetically determined. The list includes strabismus, amblyopia (lazy eye) and refractive errors such as myopia, hypermetropia and astigmatism.

Eye abnormalities are present in a third of hereditary, systemic diseases. The presence of a particular eye problem known to be associated with a systemic disease is often the deciding factor in confirming the diagnosis of this disease.

For example, a dislocated lens in the eye can confirm the diagnosis of Marfan syndrome, a disease of connective tissue associated with heart problems. A characteristic red cherry spot on the eye usually indicates Tay-Sachs disease.

The doctors at our EyeClinic work closely with specialist geneticists to provide early diagnosis and effective treatment for complications of hereditary eye disorders.

The ophthalmologist, pediatrician, geneticist or your family doctor may refer you or your child to our EyeClinic for specialized evaluation, examination and diagnosis if there is a suspicion of a genetic eye disease.  work closely with experts in other fields to integrate ophthalmological treatment into the overall patient care plan.

What can I expect during an assessment?

When you or your child are referred to ourClinic, a genetic eye disease specialist will work with you to diagnose the problem and schedule monitoring and possible treatment.

You will be asked about your personal and family medical history, paying particular attention to the signs and symptoms of genetic disorders. After this is completed, you will be asked to help draw your family tree and identify other family members who may be affected with similar problems. A slit lamp examination will be used for a detailed eye examination and eye pressure check. Using eye drops to dilate the pupil of the eye, the ophthalmologist can examine the lens, optic nerve and retina for abnormalities.

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

The ophthalmologists of our center have the know-how to diagnose and offer advice for the treatment of genetic eye diseases.

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