Autosomal dominant cataracts and Peters anomaly in a large Australian family.
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.
Withers
S J
SJ
Department of Medicine, University of Queensland, Brisbane, Australia.
Gole
G A
GA
Summers
K M
KM
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001315:Australia; D002386:Cataract / Q000208:ethnology / Q000235:genetics*; D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11; D003318:Corneal Opacity / Q000151:congenital / Q000208:ethnology / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics; D005136:Eye Proteins; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D005819:Genetic Markers; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins