Autosomal dominant cataracts and Peters anomaly in a large Australian family

Clinical Genetics
S J WithersK M Summers


Peters anomaly is a congenital corneal opacity with underlying defects in the posterior stroma, Descemets membrane and corneal endothelium. It is a disorder resulting from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris. We report a family in which anterior segment abnormalities, including Peters anomaly and cataracts, were inherited in an autosomal dominant fashion. Although the PAX6 gene on chromosome 11 has been shown to be involved in some cases of anterior segment developmental defects, we found no evidence that the condition in this family is linked to the PAX6 gene. Identification of this gene will indicate another gene with major involvement in the development of the anterior segment of the eye.


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Related Concepts

PAX6 protein, human
PAX6 Transcription Factor
Chromosomes, Human, Pair 11
Corneal Opacity
DNA Helix Destabilizing Proteins
Eye Proteins
Genes, Dominant
Genetic Markers
Genetic Linkage Analysis

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