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Klin Monbl Augenheilkd 2015; 232(4): 382-383
DOI: 10.1055/s-0034-1396329
DOI: 10.1055/s-0034-1396329
Der interessante Fall
A Case of WAGR Syndrome with Petersʼ Anomaly
Ein Fall eines WAGR-Syndroms mit Peters-AnomalieFurther Information
Publication History
Publication Date:
22 April 2015 (online)
Background
WAGR syndrome (Wilmsʼ tumor, aniridia, genitourinary anomalies and mental retardation) is caused by the deletion of chromosome 11p13, including the Wilms tumor gene (WT1) and the PAX6 gene [1].
Petersʼ anomaly is an anterior segment dysgenesis with central corneal opacity (leukoma), variable degrees of iris adhesions and occasionally cataract [2].
Mutations of the PAX6 gene, known to result in aniridia in WAGR syndrome, are also found in different anterior segment malformations including Petersʼ anomaly [3].
We report of a case of a one year old boy, who has a genetically confirmed WAGR syndrome with partial aniridia and Petersʼ anomaly.
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References
- 1 Fischbach BV, Trout KL, Lewis J et al. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005; 116: 984-988
- 2 Medical Research Counsil Human Genetics Unit. The human PAX6 allelic variant database Web site. Available at: http://www.hgu.mrc.ac.uk/Softdata/PAX6 Acessed June 12, 2014
- 3 Hanson IM, Fletcher JM, Jordan T et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Petersʼ anomaly. Nat Genet 1994; 6: 168-173
- 4 Eiferman RA. Association of Wilmsʼ tumor with Peterʼs anomaly. Ann Ophthalmol 1984; 16: 933-934
- 5 Kawase E, Tanaka K, Honna T et al. A case of atypical WAGR syndrome with anterior segment anomaly and microphthalmos. Arch Ophthalmol 2001; 119: 1855-1856
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- 7 Miller RW, Fraumeni JF, Manning MD. Association of Wilmsʼs tumour with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 1964; 270: 922-927
- 8 Azuma N, Yamaguchi Y, Handa H et al. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. Am J Hum Genet 2003; 72: 1565-1570