Choroideremia in a female.

mitted on the X chromosome. The fully developed condition is confined to males who present with progressive visual loss. The age of onset, speed of progression, and degree of this visual loss are all variable, but it is to be expected that an affected male will have serious visual disability at least in adult life. Characteristic minor abnormalities of the fundus have been described in heterozygous females and they may progress to cause a mild degree of visual loss in adult life (Kurst jens, 1965 ; Krill, 1967) ; the disability in such carrier females is, however, never severe, nor do the fundus appearances develop to the stage seen in affected males. In this communication a case of advanced choroideremia causing serious visual loss from early childhood is described occurring in a female. The family history (see family tree) is consistent with the hypo thesis that she is a heterozygote for the gene causing choroideremia who manifests the condition in very severe form.