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Article

Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.

Scientific reports - 10 Apr 2017

Yang Guoxing, Liu Zhiqiang, Xie Shipeng, Li Chengquan, Lv Lina, Zhang Minglian, Zhao Jialiang

Abstract excerpt

Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three...

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Identifiers

PMID: 28393863
DOI: 10.1038/srep46285
PMCID: PMC5385556

Genes

RPE65
RDH5
RLBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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