Analysis of the ABCR (ABCA4) gene in 4-aminoquinoline retinopathy: is retinal toxicity by chloroquine and hydroxychloroquine related to Stargardt disease? - 03/09/11
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Abstract |
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 flanking 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.
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| ☆ | Mr Shroyer is supported by a National Eye Institute, National Institutes of Health, Bethesda, Maryland, predoctoral training grant (T32 EY07102). Dr Lewis is a Senior Scientific Investigator of Research to Prevent Blindness, New York, New York. This work was supported in part by grants from the National Institutes of Health (R01 EY1780), the Milton and Ruth Steinbach Fund, New York, New York; the Foundation Fighting Blindness, Hunt Valley, Maryland; and unrestricted funds from Research to Prevent Blindness to the Department of Ophthalmology, Baylor College of Medicine, Houston, Texas. |
Vol 131 - N° 6
P. 761-766 - juin 2001 Retour au numéro
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