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Article
March 1981

Congenital X-Linked Incomplete AchromatopsiaEvidence for Slow Progression, Carrier Fundus Findings, and Possible Genetic Linkage With Glucose-6-Phosphate Dehydrogenase Locus

Author Affiliations

From the Wilmer Ophthalmological Institute, The Johns Hopkins Medical Institutions, Baltimore (Dr O'Donnell), and the Department of Ophthalmology, St Louis University (Dr Fleischman). Dr Fleischman is now with the Bethesda Eye Institute, St Louis.

Arch Ophthalmol. 1981;99(3):468-472. doi:10.1001/archopht.1981.03930010470016
Abstract

• Twenty-nine members of a black kindred with congenital X-linked incomplete achromatopsia were examined; nine affected males and seven carrier females were identified. The new findings of importance are the following: (1) this congenital disorder is a slowly progressive abiotrophy, with progressive macular scarring and cone dysfunction, rather than a stationary anomaly; (2) carrier females sometimes can be found by ophthalmoscopic and fluorescein angiographic abnormalities in the macula; and (3) genetic linkage studies give evidence against linkage with the locus for the Xg blood group, but they suggest possible linkage with the glucose-6-phosphate dehydrogenase locus.

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