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Article

Genotype-Phenotype Association in ABCA4-Associated Retinopathy.

Advances in experimental medicine and biology - 1 Jan 2023

Pfau Maximilian, Zein Wadih M, Huryn Laryssa A, Cukras Catherine A, Jeffrey Brett G, Hufnagel Robert B, Brooks Brian P

Abstract excerpt

Stargardt disease (STGD1) is the most common inherited retina degeneration. It is caused by biallelic ABCA4 variants, and no treatment is available to date. STGD1 shows marked phenotypic variability, especially regarding the age of onset. The underlying genotype can partially explain this variability. Notably, a subset of ABCA4 variants was previously associated with an earlier disease onset than truncating ABCA4...

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Identifiers

PMID: 37440047
DOI: 10.1007/978-3-031-27681-1_42
PMCID: PMC11483471

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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