It can result from a change in the normal genetic code (DNA sequence). Most genetic disorders are caused by a combination of genetic and environmental factors, but a large proportion is also due to mutations in single genes or chromosomal abnormalities. The resultant disease can affect the eyes alone, but can also involve other parts of the body (forming a syndrome).

Genetic eye disease includes congenital (present at birth) eye malformations (microphthalmia [small abnormal eyes], anophthalmia [no eyes] and ocular coloboma [cleft in the eyeball]), congenital cataracts, congenital glaucoma, inherited retinal degenerations, optic atrophy and certain types of strabismus with a family history.

Common diseases such as refractive error e.g. myopia (short-sightedness), glaucoma and age-related macular degeneration also have a genetic component together with environmental influences.

It is important to consult a specialist in eye genetics to make an accurate timely diagnosis as they have expertise in identifying genetic eye conditions through the appropriate examination and investigations, in order to provide reliable advice, information on prognosis and offer appropriate genetic counselling. There are many novel therapies on the horizon for genetic eye disease and knowing one’s genetic mutation can help gain access to new research and treatments.