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Article

Phenotypic and genotypic features of POC1B-associated cone dystrophy.

Ophthalmic genetics - 1 Feb 2024

Alzahem Tariq A, AlTheeb Abdulwahab, Ba-Abbad Rola

Abstract excerpt

PURPOSE: Patients with cone dystrophy (CD) can present with virtually normal retinal appearance, which may delay diagnosis. This study describes the inconspicuous clinical features of POC1B-associated CD in two Saudi families. METHODS: This is a retrospective case study. Clinical data analyzed included multimodal retinal imaging and electroretinography of the affected individuals. Genetic analysis was done for...

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Source

Identifiers

PMID: 37246743
DOI: 10.1080/13816810.2023.2204361

Genes

POC1B

Variants

Provenance

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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