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

doi:10.1111/aos.14679

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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....

Topics

ATP-Binding Cassette Transporters
Adolescent
Adult
Child
Child, Preschool
DNA
DNA Mutational Analysis
Female
Genetic Association Studies
Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Humans

Infant

Infant, Newborn

Male

Middle Aged

Mutation

Norway

Source

Open in PubMed

Identifiers

PMID: 33258285
DOI: 10.1111/aos.14679

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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