Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

doi:10.1167/iovs.66.6.19

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Article

Expansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.

Investigative ophthalmology & visual science - 2 Jun 2025

Panneman Daan M, Hitti-Malin Rebekkah J, McKibbin Martin, de Bruijn Suzanne E, Boonen Erica G M, Vincent Andrea L, Vargas Glenda, Corominas Jordi, Astuti Galuh, Gilissen Christian, De Baere Elfride, Inglehearn Chris F, Roosing Susanne, Koenekoop Robert K, Cremers Frans P M

Abstract excerpt

Purpose: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are inherited retinal diseases that are characterized by severe visual loss very early in life. Whereas LCA is characterized by loss of vision in the first year of life, nystagmus, and absent or abnormal electrical signals on electroretinogram, persons with EOSRD show onset of disease between 1 and 5 years of age, with...

Topics

Humans
ATP-Binding Cassette Transporters
Retinal Dystrophies
Male
Electroretinography
Female
Pedigree
Child, Preschool
Visual Acuity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leber Congenital Amaurosis

Phenotype

Infant

Mutation

DNA Mutational Analysis

Whole Genome Sequencing

Exome Sequencing

Eye Diseases, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 40465261
DOI: 10.1167/iovs.66.6.19
PMCID: PMC12147048

Genes

ABCA4
CNGB3
NBAS

Provenance

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

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