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

doi:10.1007/s10633-013-9383-0

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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...

Topics

Adolescent
Adult
DNA
DNA Mutational Analysis
Disease Progression
Electroretinography
Female
Follow-Up Studies
Guanylate Cyclase
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Middle Aged

Mutation

Pedigree

Phenotype

Receptors, Cell Surface

Retinal Cone Photoreceptor Cells

Source

Open in PubMed

Identifiers

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

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