Genetic factors play a role in many types of eye diseases, including those that are the leading cause of blindness in infants, children and adults. In adults, glaucoma and age-related macular degeneration are two of the leading causes of blindness. We currently know more than 200 different genes associated with diseases such as early onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt's disease and Stickler's syndrome.

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Congenital glaucoma, which is usually detected in early childhood, is a broad group of disorders that present with elevated intraocular pressure. A number of other conditions and syndromes may present with childhood glaucoma, along with other ocular and / or systemic findings. Associated syndromes include aniridia (autosomal dominant) and syndromes of anterior segment dysgenesis (both are autosomal dominant).

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Retinitis pigmentosa is a non-syndromic or syndromic disease of the retina that causes night blindness and gradual loss of vision. Occurs in 1: 3000 to 1: 7,000 of the population3. The genetics of the affected pathways in this disease is complicated; the disease can be inherited in an autosomal dominant, autosomal recessive or chromosome-linked manner.

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Stargardt disease is a common hereditary form of macular dystrophy with an estimated incidence of 1 in 10000. It is characterized by the onset of adolescence, the central visual impairment and the frequent appearance of orange-yellow spots. Other hereditary macular dystrophies include Sorsby fundus dystrophy.

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Stickler syndrome is a connective tissue disorder that can include myopia, cataracts, and retinal detachment, as well as manifestations in the inner ear, skeleton, and joints. It is usually caused by pathogenic variants in one of six genes (80-90% by mutations in one gene, COL2A1), although there may be another 6.