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Article

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.

Ophthalmic genetics - 1 Jun 2022

Catomeris Andrew J, Ballios Brian G, Sangermano Riccardo, Wagner Naomi E, Comander Jason I, Pierce Eric A, Place Emily M, Bujakowska Kinga M, Huckfeldt Rachel M

Abstract excerpt

BACKGROUND: Variants in RCBTB1 were recently described to cause a retinal dystrophy with only eight families described to date and a predominant phenotype of macular atrophy and peripheral reticular degeneration. Here, we further evaluate the genotypic and phenotypic characteristics of biallelic RCBTB1-associated retinal dystrophy in a North American clinic population. METHODS: A retrospective analysis of genetic...

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Identifiers

PMID: 35057699
DOI: 10.1080/13816810.2021.2023196
PMCID: PMC9177531

Provenance

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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