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Article

Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.

Current gene therapy - 1 Jan 2022

Xiao Xuan, Ye Lin, Chen Changzheng, Zheng Hongmei, Yuan Jiajia

Abstract excerpt

BACKGROUND: Hereditary retinal degeneration (HRD) is an irreversible eye disease that results in blindness in severe cases. It is most commonly caused by variants in the ABCA4 gene. HRD presents a high degree of clinical and genetic heterogeneity. We determined genotypic and phenotypic correlations, in the natural course of clinical observation, of unrelated progenitors of HRD associated with ABCA4. OBJECTIVE: To...

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Identifiers

PMID: 35170407
DOI: 10.2174/1566523222666220216101539
PMCID: PMC10495610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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