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Article

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.

Investigative ophthalmology & visual science - 1 Apr 2025

Antropoli Alessio, Bianco Lorenzo, Zanlonghi Xavier, Benadji Amine, Condroyer Christel, Antonio Aline, Navarro Julien, Dhaenens Claire-Marie, Sahel José-Alain, Zeitz Christina, Audo Isabelle

Abstract excerpt

Purpose: Pathogenic variants in RP1L1 are associated with autosomal dominant occult macular dystrophy (OMD) and autosomal recessive retinitis pigmentosa (RP). In this study, we investigated the phenotypic and genotypic landscape of RP1L1-associated retinopathy in an ethnically heterogeneous cohort. Methods: This multicenter cohort study retrospectively collected the following data: best-corrected visual acuity...

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Identifiers

PMID: 40172514
DOI: 10.1167/iovs.66.4.7
PMCID: PMC11967996

Genes

OMD
RP1L1
CFP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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