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Article

A homozygous POC1B variant causes recessive cone-rod dystrophy.

Ophthalmic genetics - 1 Jun 2021

Peturson Ann-Marie C, Noel Nicole C L, MacDonald Ian M

Abstract excerpt

Purpose: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the POC1B gene.Methods: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical coherence tomography, full field electroretinography, semi-kinetic perimetry, and Ishihara plate testing. A DNA sample was collected and sent for diagnostic molecular...

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Identifiers

PMID: 33657974
DOI: 10.1080/13816810.2021.1894460

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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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