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October 1966

Choroideremia: Study of a Family and Literature Review

Author Affiliations

Gainesville, Fla; Waterloo, Iowa
From the Department of Ophthalmology of the University of Florida, Gainesville, and the University of Iowa, Iowa City.

Arch Ophthalmol. 1966;76(4):563-574. doi:10.1001/archopht.1966.03850010565015

Choroideremia is a bilateral, hereditary, progressive degeneration of the choroid and retina, characterized by night blindness, visual field constriction, and eventual blindness. This report summarizes the pertinent literature on this subject, calls special attention to the well-documented, asymptomatic, but detectable, carrier state, and emphasizes the need for its early diagnosis to provide prompt, appropriate genetic counseling. A family with classical choroideremia is presented to illustrate important diagnostic features of the condition and its carrier state.

Historical Review  In 1872, Mauthner1 described two patients with pigmentary changes in the fundus, night blindness, and constricted fields; he considered this syndrome different from retinitis pigmentosa. This conclusion was based on the striking fundus features: complete atrophy of the choroid, normal retinal vessels, and absence of optic nerve atrophy. He stressed the similarity to choroidal coloboma and described it as "choroideremia," which implied a developmental or congenital absence of the choroid. As cases accumulated,

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