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Article

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2020

Liu Xiao, Meng Xiaohong, Yang Lizhu, Long Yanling, Fujinami-Yokokawa Yu, Ren Jiayun, Kurihara Toshihide, Tsubota Kazuo, Tsunoda Kazushige, Fujinami Kaoru, Li Shiying

Abstract excerpt

Stargardt disease 1 (STGD1) is the most prevalent retinal dystrophy caused by pathogenic biallelic ABCA4 variants. Forty-two unrelated patients mostly originating from Western China were recruited. Comprehensive ophthalmological examinations, including visual acuity measurements (subjective function), fundus autofluorescence (retinal imaging), and full-field electroretinography (objective function), were...

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PMID: 32845068
DOI: 10.1002/ajmg.c.31838

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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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