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Article

[Clinical and genetic findings in a patient with fundus albipunctatus].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Feb 2004

Rüther K, Janssen B P M, Kellner U, Janssen J J M, Bohne M, Reimann J, Driessen C A G G

Abstract excerpt

METHODS: The 38-year-old index patient was examined by visual acuity testing, perimetry, dark adaptometry, funduscopy, electroretinogram (ERG), and multifocal ERG. She was screened for mutations in exons 2-5 and exon/intron boundaries of the 11- cis retinol dehydrogenase gene by direct sequencing. RESULTS: Visual acuity was 1.0, but perimetry revealed paracentral scotomas associated with reading problems. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14991316
DOI: 10.1007/s00347-003-0895-y

Genes

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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