Eye disorders

Both childhood onset severe visual handicap and later onset
progressive blindness commonly have a genetic aetiology.
X linked inheritance is common, but there are also many
autosomal dominant and recessive conditions. Leber hereditary
optic neuropathy is a late onset disorder causing rapid
development of blindness that follows maternal inheritance
from an underlying mitochondrial DNA mutation. Genes for a
considerable number of a mendelian eye disorders have been
identified. Mutation analysis will increasingly contribute to
clinical diagnosis since the mode of inheritance can often not
be determined from clinical presentation in sporadic cases.
Mutation analysis will also be particularly useful for carrier
detection in females with a family history of X linked
blindness.