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Article

Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.

Acta ophthalmologica - 1 Aug 2021

Holtan Josephine Prener, Aukrust Ingvild, Jansson Ragnhild Wivestad, Berland Siren, Bruland Ove, Gjerde Birgitt Løkhaug, Stokowy Tomasz, Bojovic Ognjen, Forsaa Vegard, Austeng Dordi, Rødahl Eyvind, Bredrup Cecilie, Knappskog Per Morten, Bragadóttir Ragnheiður

Abstract excerpt

PURPOSE: Pathogenic variations in the ABCA4 gene are a leading cause of vision loss in patients with inherited retinal diseases. ABCA4-retinal dystrophies are clinically heterogeneous, presenting with mild to severe degeneration of the retina. The purpose of this study was to clinically and genetically characterize patients with ABCA4-retinal dystrophies in Norway and describe phenotype-genotype associations....

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PMID: 33258285
DOI: 10.1111/aos.14679

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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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