Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

doi:10.1076/opge.19.3.157.2184

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Article

Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene.

Ophthalmic genetics - 1 Sept 1998

Zaremba J, Feil S, Juszko J, Myga W, van Duijnhoven G, Berger W

Abstract excerpt

PURPOSE: To describe the phenotypic variability in a Polish Norrie disease (ND) family associated with the missense mutation A63D. METHODS: A patient with spared vision from a Polish ND family underwent detailed ophthalmological examinations including slit-lamp biomicroscopy, ultrasound (USG), an...

Topics

Adult
Blindness
Deafness
Electroretinography
Eye Diseases, Hereditary
Fluorescein Angiography
Fundus Oculi
Genetic Variation
Humans
Intellectual Disability
Male
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ocular Physiological Phenomena

Pedigree

Phenotype

Poland

Polymorphism, Single-Stranded Conformational

Visual Acuity

Source

Open in PubMed

Identifiers

PMID: 9810571
DOI: 10.1076/opge.19.3.157.2184

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Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9810571-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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