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Article

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.

The British journal of ophthalmology - 1 Sept 2022

Muthiah Manickam Nick, Kalitzeos Angelos, Oprych Kate, Singh Navjit, Georgiou Michalis, Wright Genevieve Ann, Robson Anthony G, Arno Gavin, Khan Kamron, Michaelides Michel

Abstract excerpt

AIM: To describe the clinical and molecular features of a novel, autosomal dominant RDH12-retinopathy. METHODS: Retrospective cross-sectional study. Twelve individuals from a four-generation British pedigree underwent ophthalmic examination, genotyping using next generation sequencing, including whole genome sequencing and multimodal retinal imaging including fundus photography, optical coherence tomography...

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Source

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Identifiers

PMID: 34031043
DOI: 10.1136/bjophthalmol-2020-318034
PMCID: PMC9411907

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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