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Article

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Eye (London, England) - 1 Dec 2023

Ballios Brian G, Mandola Amarilla, Tayyib Alaa, Tumber Anupreet, Garkaby Jenny, Vong Linda, Heon Elise, Roifman Chaim M, Vincent Ajoy

Abstract excerpt

PURPOSE: To characterize the retinal phenotype in RNU4ATAC-associated Roifman syndrome. METHODS: Ten patients (including 8 males) with molecularly confirmed Roifman syndrome underwent detailed ophthalmologic evaluation including fundus imaging, fundus autofluorescence (FAF) imaging, spectral-domain optical coherence tomography (SD-OCT), and electroretinography (ERG). Six patients had follow-up eye exams. All...

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Identifiers

PMID: 37225827
DOI: 10.1038/s41433-023-02581-1
PMCID: PMC10697969

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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