Choroidoretinal Degeneration with Retinal Reflex in Heterozygous Women 131g67b ; 131g67b ; 131g67b ; 131g67b ; 131g67b ; 131g67b ; 131g67b ; 131g67b ; 131g67b ; 242
General: Sex-linked; choroidoretinal degeneration differentiated by presence in heterozygous women of a tapetal-like retinal reflex; there is probably more than one X-linked locus leading to a retinitis pigmentosa type of picture.
Ocular: Retinitis pigmentosa; golden-hued, patchy appearance around macula.
Clinical: None.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Musarella MA, et al. Multipoint linkage analysis and heterogeneity testing in 20 X-linked RP families. Genomics 1990; 8:286-296.
Nussbaum RL, et al. Mapping X-linked ophthalmic diseases: linkage relationship of X-linked retinitis pigmentosa to X chromosomal short arm markers. Hum Genet 1985; 70:45-50.
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