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Article

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.

Investigative ophthalmology & visual science - 1 Jan 2006

Valleix Sophie, Nedelec Brigitte, Rigaudiere Florence, Dighiero Paul, Pouliquen Yves, Renard Gilles, Le Gargasson Jean-François, Delpech Marc

Abstract excerpt

PURPOSE: To elucidate the retinal dysfunction and the molecular basis of posterior polymorphous corneal dystrophy (PPCD) associated with macular dystrophy, both inherited in a dominant manner through a three-generation family. METHODS: Ophthalmologic examinations including slit lamp examination, visual acuity tests, fundus visualization by scanning laser ophthalmoscopy, fluorescein angiography, color vision...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16384943
DOI: 10.1167/iovs.05-0479

Genes

VSX1
ERG

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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H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.PMID 16384943Read ↗

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