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Article

The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate.

European journal of human genetics : EJHG - 1 Jul 2020

Green Jane S, O'Rielly Darren D, Pater Justin A, Houston Jim, Rajabi Hoda, Galutira Dante, Benteau Tammy, Sheaves Amy, Abdelfatah Nelly, Bautista Donna, Whelan Jim, Young Terry-Lynn

Abstract excerpt

Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. Therapeutic trials in patients depend on identifying causal ABCA4 variants in trans, which is complicated by extreme allelic and clinical heterogeneity. We report the genetic architecture of STGD1 in the young genetically isolated...

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Identifiers

PMID: 32467599
DOI: 10.1038/s41431-020-0581-4
PMCID: PMC7316815

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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