This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (21)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Neurology  • Otolaryngology/ Head & Neck Surgery  • Hearing Loss/ Deafness  • Alert me on articles by topic  Social Bookmarking   What's this?

A Possible New Genetic Syndrome

Emmett T. Cunningham, Jr, MD, PhD, MPH; Dean Eliott, MD; Neil R. Miller, MD; Irene H. Maumenee, MD; W. Richard Green, MD

Arch Ophthalmol. 1998;116:78-82.

Objective  To describe the clinical and ocular histopathological findings in multiple members of a family with congenital Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss.

Methods  We performed a retrospective review of the medical charts and the ocular histopathological material of multiple members of a family.

Results  Congenital Axenfeld-Rieger anomaly and glaucoma were inherited by both the proband and her male half-sibling from a phenotypically positive father and 2 different phenotypically negative mothers, suggesting an autosomal dominant inheritance. The proband's male half-sibling and her father also had atrial septal defects and sensorineural hearing loss. The proband's paternal grandmother had severe glaucoma. Histopathological analysis of blind, painful eyes removed from the proband's father and paternal grandmother showed incomplete development of the anterior chamber angle with iris stromal hypoplasia, prominent posterior embryotoxon with iris adhesions, and abnormal position and insertion of the ciliary muscles.

Conclusions  This is the first description of coexisting Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss in multiple members of a single family. The iris, trabecular meshwork, and large portions of the cardiac intraventricular septum all arise from neural crest anlagen, thus supporting the notion that anterior segment dysgenesis represents a developmental disorder of the neural crest.

From the Wilmer Ophthalmological Institute, the Johns Hopkins University Medical Institutions, Baltimore, Md. Dr Eliott is now affiliated with the Kresge Eye Institute, Wayne State University, Detroit, Mich.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Human p32 Is a Novel FOXC1-Interacting Protein That Regulates FOXC1 Transcriptional Activity in Ocular Cells
Huang et al.
IOVS 2008;49:5243-5249.
ABSTRACT | FULL TEXT  

Characterization and Prevalence of PITX2 Microdeletions and Mutations in Axenfeld-Rieger Malformations
Lines et al.
IOVS 2004;45:828-833.
ABSTRACT | FULL TEXT  

PITX2 Isoform-specific Regulation of Atrial Natriuretic Factor Expression: SYNERGISM AND REPRESSION WITH Nkx2.5
Ganga et al.
J. Biol. Chem. 2003;278:22437-22445.
ABSTRACT | FULL TEXT  

Molecular genetics of Axenfeld-Rieger malformations
Lines et al.
Hum Mol Genet 2002;11:1177-1187.
ABSTRACT | FULL TEXT  

Regulation of left-right asymmetry by thresholds of Pitx2c activity
Liu et al.
Development 2001;128:2039-2048.
ABSTRACT | FULL TEXT  

Pitx2 Regulates Procollagen Lysyl Hydroxylase (Plod) Gene Expression: Implications for the Pathology of Rieger Syndrome
Hjalt et al.
JCB 2001;152:545-552.
ABSTRACT | FULL TEXT