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CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.

Retina (Philadelphia, Pa.) - 1 Dec 2021

Heath Jeffery Rachael C, Thompson Jennifer A, Lamey Tina M, McLaren Terri L, McAllister Ian L, Constable Ian J, Mackey David A, De Roach John N, Chen Fred K

Abstract excerpt

PURPOSE: To establish a mutation-specific age-dependent ultra-widefield fundus autofluorescence (UWF-FAF) trajectory in a large Stargardt disease (STGD1) cohort using total lesion size (TLS) and to develop a clinical method for variant classification. METHODS: A retrospective study of patients with biallelic ABCA4 mutations that were evaluated with UWF-FAF. Boundaries of TLS, defined by stippled...

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PMID: 34125082
DOI: 10.1097/IAE.0000000000003227

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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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