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FL Munier, R Sidhu, E Héon, DF Schorderet; Oculoauricular Dysplasia : a Novel Autosomal Recessive Syndrome With Cataract . Invest. Ophthalmol. Vis. Sci. 2002;43(13):490.
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© ARVO (1962-2015); The Authors (2016-present)
Purpose:1) To describe a new autosomal recessive syndrome with progressive infantile cataract and dyspastic ears, 2) to exclude the known loci of autosomal recessive cataract. Methods:Two nuclear consanguineous families, sharing common ancestors were ascertained in South-Western Switzerland. 17 family members were clinically phenotyped and genotyped. Linkage and haplotype analyses were performed with markers from the region of the three previously identified AR cataract loci on chromosomes 3, 9 and 21. Results:3 patients (2 males and 1 female) were diagnosed with an autosomal recessive syndrome consisting of congenital nystagmus, bilateral microphthalmia, anterior segment dysgenesis, progressive total cataract, optic nerve head dysplasia, and ectopic hypoplastic macula. The facial phenotype is characterized by frontal bossing, full cheeks and prominent lower lip. In addition both ears are prominent, malformed and low-set. The fossa triangularis is depressed and the anthelix is protruding. The scapha is slightly everted and continues with split lobule. Haplotype analysis did not support evidence for linkage of this family to the three previously identified loci. Conclusion:The described phenotype is clearly distinct from previous reports of recessive cataracts and represents a new syndrome. In addition, linkage data support further genetic heterogeneity for autosomal recessive cataracts.
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