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Variable expressivity in fundus albipunctatus.

作者信息

Margolis S, Siegel I M, Ripps H

机构信息

New York Eye and Ear Infirmary, New York.

出版信息

Ophthalmology. 1987 Nov;94(11):1416-22. doi: 10.1016/s0161-6420(87)33274-9.

DOI:10.1016/s0161-6420(87)33274-9
PMID:3500444
Abstract

A healthy, 14-year-old girl presented with nyctalopia, good vision, and multiple, irregular, yellowish lesions of the fundus. Dark adaptometry showed prolonged cone and rod branches, elevated thresholds, and the cone-rod transition occurring after 50 minutes in darkness. Her scotopic electroretinogram (ERG) b-wave attained normal amplitudes after 45 minutes of dark adaptation. The half-time for regeneration of rhodopsin after an extensive bleach was 16 minutes, four times longer than normal, and the maximum density difference measured by fundus reflectometry was at the lower limit of the normal range. Although photopigment kinetics were significantly faster than observed in other reported cases of fundus albipunctatus, it appears likely that there is a wide spectrum of functional and funduscopic abnormalities in this disorder. However, fundus appearance, adaptometric findings, and rhodopsin determinations serve to distinguish fundus albipunctatus from other flecked retina diseases.

摘要

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Characterization of a dehydrogenase activity responsible for oxidation of 11-cis-retinol in the retinal pigment epithelium of mice with a disrupted RDH5 gene. A model for the human hereditary disease fundus albipunctatus.
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