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Article

Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.

The British journal of ophthalmology - 1 Feb 2013

Ritter Markus, Vodopiutz Julia, Lechner Silvia, Moser Elisabeth, Schmidt-Erfurth Ursula M, Janecke Andreas R

Abstract excerpt

BACKGROUND AND AIM: To describe the clinical and genetic characteristics of a mother and her son presenting with two distinct and rare forms of retinal degeneration. METHODS: Investigations in both patients comprised spectral domain optical coherence tomography (SD-OCT), fundus autofluorescence imaging, non-contact biometry, ultrasonography, electroretinography (ERG) and analysis of the mutational status of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23143909
DOI: 10.1136/bjophthalmol-2012-302355

Genes

ERG
KCNV2
MFRP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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