ABSTRACT
There are three inherited disorders that involve primarily the choroid or in which the choroid is presumed to be the primary site of the disease. Gyrate atrophy of the retina and choroid is an autosomal recessive disease, choroideremia is X-linked, and the inherited choroidal atrophies are usually autosomal dominant disorders. A characteristic clinical picture makes these diseases readily diagnosable in the more advanced stages. However, in the early stages, the differential diagnosis with disorders primarily affecting the neural retina or the retinal pigment epithelium (RPE), including retinitis pigmentosa, may be difficult. Recent advances in molecular genetics and cytogenetics make the first two disorders particularly interesting and provide hope for more efficient clinical approaches to therapy and prevention.
