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Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.

Ophthalmology. Retina - 1 May 2024

Romano Francesco, Lamanna Francesca, Boon Camiel J F, Siligato Alessandro, Kalra Gagan, Agarwal Aniruddha, Medori Chiara, Bertelli Matteo, Pellegrini Marco, Invernizzi Alessandro, Staurenghi Giovanni, Salvetti Anna Paola

Abstract excerpt

PURPOSE: To investigate the clinical and genotypic differences in the spectrum of ABCA4-associated retinopathies (ABCA4Rs). DESIGN: Observational, cross sectional case series. PARTICIPANTS: Sixty-six patients (132 eyes) carrying biallelic ABCA4 variants. METHODS: Patients underwent visual acuity measurement and multimodal imaging. Clinical records were reviewed for age at onset, presenting symptoms, genetic...

Topics

Humans
Male
Female
ATP-Binding Cassette Transporters
Tomography, Optical Coherence
Fluorescein Angiography
Cross-Sectional Studies
Adult
Middle Aged
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Electroretinography

Visual Acuity

Adolescent

Child

Young Adult

Fundus Oculi

Phenotype

Aged

Source

Identifiers

PMID: 37924945
DOI: 10.1016/j.oret.2023.10.023

Genes

ABCA4
RPE
ERG

Provenance

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

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