Investigations of cataract genetics

TL;DRAbstract

Familial cataract is a heterogeneous disorder, characterised by opacity of the lens from an early age, often leading to blindness or severe visual disability. Approximately 20% of congenital cataracts are inherited and can occur in isolation or as part of over 200 genetic disorders. Many inherited cataracts also have an age of onset during childhood and as such are not truly congenital, but have similar aetiologies. There have been fourteen genes identified for isolated familial cataract, but many of the molecular causes remain unknown. Forty-five pedigrees with various forms of familial cataract have been collected from south-eastern Australia. This collection includes 40 with autosomal inheritance, four with X-linked inheritance and one with Nance-Horan Syndrome (NHS), an X-linked syndrome involving congenital cataract, dental abnormalities and mental retardation. Linkage studies of the large pedigree with Nance-Horan Syndrome lead to the refinement of the critical region for this di

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