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Variable Expression of Ophthalmological Findings in the 13q Deletion Syndrome—Reply

Variable Expression of Ophthalmological Findings in the 13q Deletion Syndrome—Reply In reply We appreciate the comments from Dr Lansink and colleagues regarding our photo essay on the 13q deletion syndrome.1 As outlined previously, the manifestations of this syndrome can include growth and mental retardation, holoprosencephaly, microcephaly, retinoblastoma, colobomata, microphthalmia, hypertelorism, large and low-set ears, prominent nasal bridge, cardiac defects, gastrointestinal and urogenital malformations, and distal limb anomalies.2 We agree with Dr Lansink and colleagues that it is interesting that both patients had a hearing deficit yet this has not been reported as a typical manifestation of the 13q deletion syndrome. Further review of the literature reveals that the auditory pigmentary disorder Waardenburg-Shah syndrome has been mapped to the endothelin B receptor gene on 13q22. The existence of a contiguous gene syndrome involving genes necessary for the normal development of the neural crest derivatives of the eye, inner ear, and colon has been suggested.3,4 The 2 cases differ in that our case demonstrated bilateral findings, whereas that of Dr Lansink and colleagues revealed a unilateral coloboma with retinoblastoma. The recognition that genetic diseases such as retinoblastoma and coloboma may be unilateral has been of great interest to all of us. Again, we thank Dr Lansink and colleagues for sharing their case. Correspondence: Dr Abramson, Ophthalmic Oncology Service, Memorial Sloan-Kettering Cancer Center, 70 E 66th St, New York, NY 10021 (dhamd@aol.com). References 1. Schocket LSBeaverson KLRollins ISAbramson DH Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. Arch Ophthalmol 2003;121916- 917PubMedGoogle ScholarCrossref 2. Brown SRusso JChitayat DWartburton D The 13q-syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995;57859- 866PubMedGoogle Scholar 3. Van Camp GVan Thienen MNHandig IChromosome ETAL, 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995;32531- 536PubMedGoogle ScholarCrossref 4. Shanske AFerreira JCLeonard JCFuller PMarion RW Hirschprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 2001;102231- 236PubMedGoogle ScholarCrossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Variable Expression of Ophthalmological Findings in the 13q Deletion Syndrome—Reply

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Publisher
American Medical Association
Copyright
Copyright © 2005 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.123.1.128-a
Publisher site
See Article on Publisher Site

Abstract

In reply We appreciate the comments from Dr Lansink and colleagues regarding our photo essay on the 13q deletion syndrome.1 As outlined previously, the manifestations of this syndrome can include growth and mental retardation, holoprosencephaly, microcephaly, retinoblastoma, colobomata, microphthalmia, hypertelorism, large and low-set ears, prominent nasal bridge, cardiac defects, gastrointestinal and urogenital malformations, and distal limb anomalies.2 We agree with Dr Lansink and colleagues that it is interesting that both patients had a hearing deficit yet this has not been reported as a typical manifestation of the 13q deletion syndrome. Further review of the literature reveals that the auditory pigmentary disorder Waardenburg-Shah syndrome has been mapped to the endothelin B receptor gene on 13q22. The existence of a contiguous gene syndrome involving genes necessary for the normal development of the neural crest derivatives of the eye, inner ear, and colon has been suggested.3,4 The 2 cases differ in that our case demonstrated bilateral findings, whereas that of Dr Lansink and colleagues revealed a unilateral coloboma with retinoblastoma. The recognition that genetic diseases such as retinoblastoma and coloboma may be unilateral has been of great interest to all of us. Again, we thank Dr Lansink and colleagues for sharing their case. Correspondence: Dr Abramson, Ophthalmic Oncology Service, Memorial Sloan-Kettering Cancer Center, 70 E 66th St, New York, NY 10021 (dhamd@aol.com). References 1. Schocket LSBeaverson KLRollins ISAbramson DH Bilateral retinoblastoma, microphthalmia, and colobomas in the 13q deletion syndrome. Arch Ophthalmol 2003;121916- 917PubMedGoogle ScholarCrossref 2. Brown SRusso JChitayat DWartburton D The 13q-syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 1995;57859- 866PubMedGoogle Scholar 3. Van Camp GVan Thienen MNHandig IChromosome ETAL, 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q. J Med Genet 1995;32531- 536PubMedGoogle ScholarCrossref 4. Shanske AFerreira JCLeonard JCFuller PMarion RW Hirschprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 2001;102231- 236PubMedGoogle ScholarCrossref

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Jan 1, 2005

References