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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)
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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
- 6 Adyanthaya RS, Repka MX. A rare case of WAGR syndrome with Peter anomaly. Eye Reports 2011; 1: e4
- 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