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Article

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.

Gene - 25 Apr 2013

Rivera-De la Parra David, Cabral-Macias Jesus, Matias-Florentino Margarita, Rodriguez-Ruiz Gabriela, Robredo Violeta, Zenteno Juan Carlos

Abstract excerpt

OBJECTIVE: The purpose of this study was to determine the molecular basis of retinitis pigmentosa (RP) in a 4 affected sib-family segregating this retinal phenotype. METHODS: Affected sibs underwent complete ophthalmologic examination including funduscopic inspection, electroretinogram, fluorescein angiography, visual field measurement, and optical coherence tomography. Both parents were deceased after their...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23402891
DOI: 10.1016/j.gene.2013.01.048

Genes

RHO

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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