Choroideremia (tapetochoroidal dystrophy, progressive; choroidal sclerosis)    241

General: Sex-linked; onset at early age; progressive; primary degeneration may be of the retina, retinal pigment epithelium, or choriocapillaris; pigment stippling or granularity also evident in female carriers who possess normal and abnormal cells, through Barr body inactivation of one X chromosome.

Ocular: Reduction of central vision; constriction of visual fields; night blindness; choroidal and retinal atrophy.

Clinical: None.

Flannery JG, et al. Histopathologic study of a choroideremia carrier. Invest Ophthalmol Vis Sci 1990; 31:229.

Lesko JG, et al. Choroideremia is tightly linked to two proximal XQ chromosomal markers. Am J Hum Genet 1985; 37:165.

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/.

Merin S. Choroideremia. In: Merin S, ed. Inherited Eye Diseases: Diagnosis and Clinical management. New York: Marcel Dekker, 1991:312-318.