Journal
AMERICAN JOURNAL OF OPHTHALMOLOGY
Volume 131, Issue 6, Pages 761-766Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/S0002-9394(01)00838-8
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- NEI NIH HHS [R01 EY1780, T32 EY07102] Funding Source: Medline
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PURPOSE: To determine if mutations in ABCR (ABCA4) are associated with chloroquine/hydroxychloroquine retinopathy, METHODS: DNA from eight patients with chloroquine or hydroxychloroquine retinopathy was studied. Controls were 80 individuals over age 65 years with normal retinal examinations. Ophthalmoscopy, color vision testing, visual fields, retinal photography, and fluorescein angiography were performed on the eight patients, Direct DNA sequencing of the exons and nanking intronic regions of the ABCR gene was completed for all patients. RESULTS: Clinical evaluation confirmed the diagnosis of chloroquine/hydroxychloroquine retinopathy and excluded Stargardt disease in each patient, Two patients had heterozygous ABCR missense mutations previously associated with Stargardt disease. None of the controls had these missense mutations. Three other patients had other missense polymorphisms. CONCLUSIONS: Some individuals who have ABCR mutations may be predisposed to develop retinal toxicity when exposed to chloroquine/hydroxychloroquine. We urge further study of a larger cohort of patients with chloroquine/hydroxychloroquine retinopathy. (Am J Ophthalmol 2001;131:761-766. (C) 2001 by Elsevier Science Inc. All rights reserved,).
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