This Article  • References  • 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  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

A New Recessive Syndrome

Cynthia J. MacKay, MD; Mitchell S. Shek, MD; Ronald E. Carr, MD; Lawrence A. Yanuzzi, MD; Peter Gouras, MD

Arch Ophthalmol. 1987;105(3):366-371.

Abstract
• Seven related patients had a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. In addition, each patient had high hyperopia (+9.50 to +16.00) and nanophthalmos (axial lengths, <20 mm), with diffuse choroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. Chromosomes were normal. On electroretinographic testing, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times; older patients had severely diminished or extinguished electroretinograms. This family appears to represent a newly recognized autosomal-recessive syndrome.

Author Affiliations
From the Departments of Ophthalmology, Columbia University (Drs MacKay, Shek, and Gouras), New York University School of Medicine (Dr Carr), and Manhattan Eye, Ear, and Throat Hospital (Dr Yanuzzi), New York.

Footnotes
Accepted for publication Sept 12, 1986.

Reprint requests to Department of Ophthalmology, Columbia University, 630 W 168th St, New York, NY 10032 (Dr Gouras).

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

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein
Sundin et al.
Proc. Natl. Acad. Sci. USA 2005;102:9553-9558.
ABSTRACT | FULL TEXT  

A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
Reddy et al.
Br. J. Ophthalmol. 2003;87:197-202.
ABSTRACT | FULL TEXT  

The nanophthalmic macula
Serrano et al.
Br. J. Ophthalmol. 1998;82:276-279.
ABSTRACT | FULL TEXT