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Article

A ROD-CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY.

Retina (Philadelphia, Pa.) - 1 Aug 2021

Meunier Isabelle, Bocquet Béatrice, Charif Majida, Dhaenens Claire-Marie, Manes Gael, Amati-Bonneau Patrizia, Roubertie Agathe, Zanlonghi Xavier, Lenaers Guy

Abstract excerpt

PURPOSE: RTN4IP1 biallelic mutations cause a recessive optic atrophy, sometimes associated to more severe neurological syndromes, but so far, no retinal phenotype has been reported in RTN4IP1 patients, justifying their reappraisal. METHODS: Seven patients from four families carrying biallelic RTN4IP1 variants were retrospectively reviewed, with emphasis on their age of onset, visual acuity, multimodal imaging...

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Identifiers

PMID: 33315831
DOI: 10.1097/IAE.0000000000003054
PMCID: PMC8297537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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