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Article

ABCA4-Associated Stargardt Disease.

Klinische Monatsblatter fur Augenheilkunde - 1 Mar 2020

Khan Mubeen, Cremers Frans P M

Abstract excerpt

Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene. The phenotypes range from early-onset STGD1, that clinically resembles severe cone-rod dystrophy, to intermediate STGD1 and late-onset STGD1. These different phenotypes can be correlated with different combinations of ABCA4 variants which can be classified according to their degree of severity. A significant fraction of...

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PMID: 32016942
DOI: 10.1055/a-1057-9939

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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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