Choroideremia. A report of three cases in three generations.

THE appearances of the fundi in choroideremia have fascinated ophthalmologists since the first cases were described by Mauthner (1871). This author differentiated the condition from retinitis pigmentosa. His two cases had night-blindness and constricted visual fields, but in addition there was marked choroidal atrophy giving a brilliant white appearance to the fundi, the retinal vessels were normal, and the optic disks were not atrophic. The disease is rare but since that time many cases have been reported. Considerable confusion exists throughout the literature because white, atrophic fundi may be found in the final stages of other diseases, e.g., retinitis pigmentosa, choroidal sclerosis, and gyrate atrophy.