Hereditary eye diseases

Many eye diseases have a genetic basis with very pronounced genetic heterogeneity (pathogenic variants in many different genes may be causative). Hereditary forms are found especially in the following diseases, each of which may present as isolated or in syndromic form:

• Retinal degenerations (retinitis pigmentosa, macular dystrophy, cone-rod dystrophy, Leber congenital amaurosis/LCA)
• Congenital stationary night blindness (CSNB)
• Retinal detachment
• Congenital nystagmus
• Cataract
• Optic atrophy
• An- and microphthalmia; other defects of eye development
• Albinism