ABSTRACT
The study of inherited eye disorders formed a major part of early work on the Mendelian basis of genetic disease, largely because their non-lethal nature led to large families with clear inheritance patterns, but also because many generalised genetic disorders have ocular manifestations important in diagnosis. A remarkable number of X-linked disorders affecting the eye are known, and these are listed separately, because they produce special problems in genetic counselling. A great variety of types exist, characterised by particular features of fundal appearance, differences in severity and progression, and different responses to various types of electrodiagnostic investigation. The macular dystrophies are a heterogeneous group, selectively involving central vision in contrast to the early peripheral involvement in retinitis pigmentosa. Retinal detachment is commonly associated with severe myopia, and a significant risk to relatives is only likely when th.
