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Article

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.

Documenta ophthalmologica. Advances in ophthalmology - 1 Feb 2024

Torrell-Belzach Nuria, Miere Alexandra, Bhouri Rakia, Srour Mayer, Souied Eric H, Zambrowski Olivia

Abstract excerpt

PURPOSE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases. METHODS: This is an observational case report of a 56-year-old woman, with scattered...

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Collagen
Electroretinography
Follow-Up Studies
ERG gene
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Retinal Diseases

Retinal Dystrophies

Source

Identifiers

PMID: 38129706
DOI: 10.1007/s10633-023-09958-3

Genes

ERG
C1QTNF5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.PMID 38129706Read ↗

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