Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion.

Abstract

Axenfeld-Rieger (AR) ocular anomaly might be due to deletions of different chromosomes. No association between AR, mental retardation, and retinoblastoma has been described. We report a 2-month-old female with general development delay and dysmorphic features. AR anomaly was detected, and a retinoblastoma (RB) was diagnosed in a very early stage. De novo 13q deletion was identified. Systemic chemotherapy, focal cryotherapy, transpupillary thermotherapy, brachytherapy, and intra-arterial chemotherapy were needed to control the RB. This is the first report of an association of AR, 13q deletion, and retinoblastoma, to be disclosed in patients born with such ocular and dysmorphic features.

• Authors: Ana Roche, Jaume Mora, Maria Del Mar Perez, Esther Gean, Belen Perez, Mar O'Callaghan, Jaume Catala, Carmen De Torres, Ofelia Cruz, Joan Prat, Andreu Parareda
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 54 Issue 3 Pg. 480-2 (Mar 2010) ISSN: 1545-5017 [Electronic] United States
• PMID: 19927293 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Wiley-Liss, Inc.

Topics

• Chromosome Deletion
• Chromosomes, Human, Pair 13
• Eye Abnormalities (genetics)
• Female
• Humans
• Infant
• Retinoblastoma (genetics)
• Syndrome