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Article

Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).

Acta ophthalmologica - 1 May 2013

Soumplis Vasileios, Sergouniotis Panagiotis I, Robson Anthony G, Michaelides Michel, Moore Anthony T, Holder Graham E, Webster Andrew R

Abstract excerpt

PURPOSE: To describe the ocular and electrophysiological phenotype of four patients with late-onset retinal degeneration (LORD). METHODS: Clinical examination, fundus and anterior segment photography, fundus autofluorescence imaging and spectral domain optical coherence tomography (SD-OCT) were performed. Three patients underwent pattern and full-field electroretinography (ERG). Patient DNA was screened for the...

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Source

Identifiers

PMID: 23289492
DOI: 10.1111/aos.12010

Genes

ERG
RPE

Variants

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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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