Peripheral pigmented lesions in ABCA4-associated retinopathy.

doi:10.1080/13816810.2021.1897850

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Article

Peripheral pigmented lesions in ABCA4-associated retinopathy.

Ophthalmic genetics - 1 Aug 2021

Al-Ani Haya H, Sheck Leo, Vincent Andrea L

Abstract excerpt

Purpose: To investigate the prevalence and characteristics of peripheral pigmented retinal lesions and the associated clinical and genetic findings in patients with pathogenic variants in the ABCA4 gene.Methods: Records at a single tertiary hospital were retrospectively reviewed to identify the presence of peripheral pigmented retinal lesions on wide-field retinal imaging in patients with ABCA4-associated...

Topics

ATP-Binding Cassette Transporters
Adolescent
Adult
Age of Onset
Aged
Child
Child, Preschool
Electroretinography
Female
Genetic Association Studies
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Optical Imaging

Peripherins

Retinal Dystrophies

Retinal Pigment Epithelium

Source

Open in PubMed

Identifiers

PMID: 33706644
DOI: 10.1080/13816810.2021.1897850

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

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