Journal of Health and Allied Sciences NU, Table of Contents CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2016; 06(01): 080-081DOI: 10.1055/s-0040-1708623 Case Report Aniridia : A window to wilm's tumour Samyakta Shetti 1 Postgraduate, Department of Ophthalmology, KLE University, JNMC, KLES Dr. Prabhakar Kore Hospital & MRC, Belgaum - 590 001, Karnataka, India , Harshavardhan Patil 2 Assistant Professor, Department of Ophthalmology, KLE University, JNMC, KLES Dr. Prabhakar Kore Hospital & MRC, Belgaum - 590 001, Karnataka, India› Author AffiliationsRecommend Article Abstract PDF Download Abstract We are reporting a case with aniridia which lead to the diagnosis of Wilm's tumour in a twelve month male child. Keywords: Keywords:aniridia - Wilm's tumour - vitA deficiency PDF (38 kb) References References 1 Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Congenital diaphragmatic hernia in WAGR syndrome. Am J Med Genet 2005;134:430–433 2 Melanie Hingorani, Anthony Moore, Aniridia, Includes: Isolated Aniridia, Wilms Tumor-Aniridia-Genital Anomalies-Retardation (WAGR) Syndrome, Bookshelf ID: NBK1360, 2008; 3 Berlin HS, Ritch R. The treatment of glaucoma secondary to aniridia. Mt Sinai J Med. 1981;48:11; 4 Nelson LB, Spaeth GL, Nowinski TS, Margo CE, Jackson L. Aniridia. A review. SurvOphthalmol. 1984;28:621–642. 5 Framumeni JF, Glass AG. Wilms' tumour and congenital aniridia. JAMA, 1968, 206, 825-828. 6 Miller RW, Fraumeni JF, Manning MD. Association of Wilms' tumor with aniridia, hemihypertrophy and other congenital malformations. N Engl J Med 1964;270:922–927. 7 RICCARDI VM, SUJANSKY E, SMITH AC, FRANCKE U: Chromosomal imbalance in the aniridia-Wilms' tumor association: lip interstitial deletion. Pediatrics 61:604-610, 1978 8 Pinna A, Carta A, Mannazzu MC, Dore S, Balata A, Carta F. WAGR syndrome with deletion of chromosome 11p11.2-13. J AAPOS 2004;8:396–397. 9 Fischbach BV, Trout KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics 2005;116:984–988. 10 Wagner KD, Wagner N, Vidal VP, Schley G, Wilhelm D, Schedl A, Englert C, Scholz H: The Wilms' tumor gene WT1 is required for normal development of the retina. EMBO J 21: 1398–1405, 2002 11 Huff V. Parental origin of WT1 mutations and mental retardation in WAGR syndrome. Nat Genet 1994;8:13
