ABSTRACT
Genetic abnormality is the commonest cause of blindness in the Western world. In the UK, genetic eye disease accounts for 24% of the 1 million adults and 23-50% of the 10000-25000 children considered legally blind or partially sighted. Age-related macular degeneration, glaucoma and diabetic retinopathy are all examples of common eye diseases with a clear genetic influence. Patients who are most likely to attend genetic eye clinics however usually express simple Mendelian conditions, such as retinitis pigmentosa and other retinal dystrophies, congenital cataract, congenital glaucoma and ocular disease in association with systemic malformations (e.g. Marfan’s syndrome).
