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An inherited central retinal pigment epithelial dystrophy



An inherited central retinal pigment epithelial dystrophy



Birth Defects Original Article Series 18(6): 281-296



This report describes three generations of one family in which a mother and three of her children were affected by an unusual bilateral symmetrical atrophy of the retinal pigment epithelium in the macular area. All members of the family underwent complete eye examinations, stereoscopic color fundus photography and fluorescein angiography. The mother and four of her children underwent Goldmann visual fields, electroretinography, electro-oculography, Farnsworth-Munsell 100-Hue test, 24-hour quantitative urine analysis for amino acids, serum lipid profile, plasma vitamin E and zinc levels, whole blood selenium and glutathione peroxidase levels, and red blood cell fragility testing. Except for the mother all members of this family were asymptomatic, had good visual acuity and had normal electrophysiologic findings. The mother had bilateral disciform scars resulting in loss of vision. There was no evidence of aminoaciduria or of abnormalities in systemic factors tested which may be associated with protection against lipoprotein peroxidation. This condition appears to be similar to central areolar retinal pigment epithelial dystrophy reported by Fetkenhour et al. (1976).

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Accession: 042247915

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PMID: 7171762


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