Peters' anomaly associated with partial deletion of the long arm of chromosome 11

American Journal of Ophthalmology
J B BatemanR S Sparkes


A 5-week-old boy with Peters' anomaly was found to have an interstitial deletion of the long arm of chromosome 11; no developmental delays or dysmorphic features were evident. His right cornea was enlarged and opaque with extensive pannus formation; the anterior chamber, iris, and lens were not visible. The left eye showed a central opacity and a superficial pannus; the optic disk and macula could not be visualized. He underwent bilateral corneal transplantation. Histologic examination of the corneal buttons confirmed the diagnosis. The potential genetic mechanisms in this case included a gene for this autosomal recessive disorder on the long arm of chromosome 11, generalized disruption of the embryogenesis of the anterior segment as a result of the deleted material, or simple autosomal recessive inheritance unrelated to the chromosomal deletion.


Jan 1, 1975·Humangenetik·J J Yunis, O Sanchez
Apr 17, 1979·Human Genetics·K SørensenJ Haahr
Jul 1, 1979·Acta paediatrica Scandinavica·I Felding, F Mitelman
Nov 1, 1976·Archives of Ophthalmology·R HaddadD S Friendly
Oct 1, 1975·American Journal of Ophthalmology·C KuperW J Stark
Mar 26, 1976·Science·J J Yunis
Mar 1, 1967·The Journal of Pediatrics·H E CrossW Breen
Mar 1, 1966·Archives of Ophthalmology·A B Reese, R M Ellsworth


Mar 5, 2004·Survey of Ophthalmology·Ian M MacDonaldM A Musarella
Sep 2, 2008·Indian Journal of Pediatrics·Seema KapoorDaraius Shroff
Jul 18, 2002·Annales de génétique·Liesbeth J J M Maillette de Buy Wenniger-Prick, Raoul C M Hennekam
Jan 1, 1986·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·S DanieleF S Liotti
Aug 28, 2010·American Journal of Medical Genetics. Part a·Ariana KariminejadMohamad Hasan Kariminejad
Dec 1, 1985·American Journal of Medical Genetics·J D KivlinM S Williams
Jun 19, 1998·American Journal of Medical Genetics·S IkegawaY Nakamura
Jan 16, 2007·American Journal of Medical Genetics. Part a·Yuri A ZarateRobert J Hopkin
Feb 1, 1994·American Journal of Medical Genetics·R F StrattonA M Bell
Oct 1, 1991·The British Journal of Ophthalmology·G E HolmströmD S Taylor
Sep 1, 1995·The British Journal of Ophthalmology·A SaitohT Amemiya
Sep 1, 1992·The Japanese Journal of Human Genetics·A WakazonoT Orii
Jun 1, 1985·Journal of Medical Genetics·J M Klep-de PaterJ B Bijlsma
Jun 1, 1992·Ophthalmic Paediatrics and Genetics·Elise HeonM A Musarella
Feb 20, 1998·Acta Ophthalmologica Scandinavica·G TrabucchiR Brancato
Jun 11, 1999·Clinical Genetics·S J WithersK M Summers
Dec 1, 1986·Ophthalmic Paediatrics and Genetics·J S Green, G J Johnson
Jan 1, 1990·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·C M MooyW R Lee
Jun 1, 1992·Ophthalmic Paediatrics and Genetics·U M Mayer

Related Concepts

Autosome Abnormalities
Chromosomes, Human,6-12
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Autosomal Chromosome Disorders

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