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Article

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2013

Xu Fei, Dong Fangtian, Li Hui, Li Xin, Jiang Ruxin, Sui Ruifang

Abstract excerpt

BACKGROUND: This study aimed to evaluate the clinical phenotype and investigate the molecular genetic defect in a Chinese family with autosomal dominant cone-rod dystrophy (ADCRD). METHODS: Family history was collected and patients underwent regular ophthalmologic examinations. Two affected individuals underwent three-year follow-ups to analyze the course of the disease. Venous blood was collected from family...

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PMID: 23686677
DOI: 10.1007/s10633-013-9383-0

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