Congenital Eye Conditions

What types of eye diseases are inherited?

Genetic factors play a role in many types of eye disease, including those that are the leading causes 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 cataracts (present at birth), congenital glaucoma, retinal degeneration, optic atrophy and malformations of the eye. Up to 40% of patients with certain types of strabismus (misalignment of the eyes) have a family history of the condition, and efforts are under way to identify the genes responsible.

Researchers are also making very significant progress in identifying the genes that cause retinitis pigmentosa, a degenerative disease of the retina that causes night blindness and gradual loss of vision.

Can vision problems be inherited?

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

Can eye abnormalities be caused by other diseases?

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

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

Can hereditary eye diseases be corrected if early diagnosis is made?

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

Your ophthalmologist, paediatrician, geneticist or family doctor may refer you or your child to our clinic for specialised evaluation, examination and diagnosis if a genetic eye disease is suspected. Our team works closely with experts in other fields to integrate ophthalmic treatment into the overall plan of care.

What can I expect during an assessment?

When you or your child are referred to our clinic, a specialist in genetic eye disease will work with you to diagnose the problem and arrange monitoring and any treatment needed.

You will be asked about your personal and family medical history, with particular attention to the signs and symptoms of genetic disorders. You will then be asked to help draw up your family tree and identify other family members who may be affected by similar problems. A slit-lamp examination allows a detailed inspection of the eye and a check of the eye pressure, and with drops to dilate the pupil, the ophthalmologist can examine the lens, optic nerve and retina for abnormalities.

Drawing on the findings of the eye examination together with your general medical history, the ophthalmologist and the referring physician then agree a plan for diagnosis and treatment.

The ophthalmologists at our centre have the expertise to diagnose genetic eye diseases and advise on their management.