Choroideremia: Clinical and genetic aspects

Abstract

(1) Choroideremia is an affection inherited in an intermediate sex-linked manner, as suggested independently by Goedbloed and Waardenburg (1942), and proved by McCulloch and McCulloch (1948). There is nothing in the older literature that is not consistent with this reading. (2) An account is given of three families with choroideremia. They all show intermediate sex-linkage. The progressive character of the affection in men is shown by the range of appearances at different ages and by records in two cases re-examined after 13 years. In women, though the ophthalmoscopic changes may be quite marked, there is nothing to suggest that they are progressive, and there are no subjective symptoms. (3) The clinical implications of intermediate sex-linkage are discussed. (4) It is suggested that the affection would be better designated " progressive choroidal atrophy ".