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Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience reports - 25 Jun 2021

Qu Ling-Hui, Jin Xin, Zeng Chao, Zhou Nian-Gou, Liu Yan-Hong, Lin Ye

Abstract excerpt

BACKGROUND: Stargardt disease (STGD) is the most common form of juvenile macular dystrophy associated with progressive central vision loss, and is agenetically and clinically heterogeneous disease. Molecular diagnosis is of great significance in aiding the clinical diagnosis, helping to determine the phenotypic severity and visual prognosis. In the present study, we determined the clinical and genetic features of...

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Identifiers

PMID: 33988224
DOI: 10.1042/BSR20203497
PMCID: PMC8173525

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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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