DNA diagnosis in a family with autosomal dominant aniridia.

doi:10.3109/13816819109025812

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Article

DNA diagnosis in a family with autosomal dominant aniridia.

Ophthalmic paediatrics and genetics - 1 Dec 1991

Verbraak F D, Mannens M A, Redeker E J, Saunders G F, Bleeker-Wagemakers E M

Abstract excerpt

A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media. Because of the high variability in expression of aniridia, even within family, a diagnosis of aniridia could not be excluded. However linkage analysis using tightly linked chromosome 11p13 markers flanking the...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Aniridia
Chromosomes, Human, Pair 11
DNA
Family
Female
Gene Expression
Genetic Linkage
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glaucoma

Humans

Male

Middle Aged

Nystagmus, Pathologic

Pedigree

Source

Open in PubMed

Identifiers

PMID: 1815167
DOI: 10.3109/13816819109025812

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1815167-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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