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Arch Ophthalmol. 2005;123:1146-1149.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

Choroideremia (Mendelian Inheritance in Man [MIM] #303100) is an uncommon X-linked chorioretinal degeneration characterized by mottling of the retinal pigment epithelium (RPE) and inexorable centripetal extension of areas of choroidal and outer retinal atrophy. Extensive rod and cone system dysfunction characteristically occurs within the first years of life. Eventually, the rod electroretinogram (ERG) becomes undetectable and cone responses are recordable only with computer averaging.¹ Nyctalopia and progressive field constriction typically become evident in the second decade with acuity loss eventually occurring because of macula involvement. Female carriers often exhibit "moth-eaten," patchy pigmentation at the level of the RPE compatible with lyonization.²

We describe the finding of normal or mildly subnormal ERGs in 3 young affected males (aged 8, 9, and 10 years) from 2 unrelated families with choroideremia (Figure 1). Direct sequencing of the choroideremia gene (CHM) identified a different nonsense (stop) mutation in each family. . . . [Full Text of this Article]

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AUTHOR INFORMATION
Peter J. Francis, FRCOphth, PhD; Gerald A. Fishman, MD; Karmen M. Trzupek, MS; Ian M. MacDonald, MD, CM; Edwin M. Stone, MD, PhD; Richard G. Weleber, MD

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