 |
|
A Novel TIMP3 Mutation Associated With Sorsby Fundus Dystrophy
Irene A. Barbazetto, MD;
Masanori Hayashi, MD;
Christina M. Klais, MD;
Lawrence A. Yannuzzi, MD;
Rando Allikmets, PhD
Arch Ophthalmol. 2005;123:542-543.
|
|
| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
|
|
|
INTRODUCTION
Sorsby fundus dystrophy (SFD), originally described by Sorsby and Mason in 1949,1 is a rare autosomal dominant retinal degeneration. To date, 8 mutations in the tissue inhibitor of metalloproteinases 3 (TIMP3) gene on chromosome 22q13 have been described in patients with SFD.2 Herein we describe clinical features in a family of Eastern European–Jewish ancestry with a novel TIMP3 mutation.
Blood samples were obtained from 2 affected and 2 unaffected family members (Figure 1). Genomic DNA was extracted, and mutational analysis was performed by direct sequencing for all exons of the TIMP3 gene, as described elsewhere.3 Patients underwent a standard ophthalmologic examination including fundus photography and fluorescein angiography. The study was approved by the institutional review board at Columbia University, New York, NY.
Figure appears in full text version.
|
|
|
|
|
AUTHOR INFORMATION
Author Affiliations: Departments of Ophthalmology (Drs Barbazetto, Hayashi, Yannuzzi, and Allikmets) and Pathology (Dr Allikmets), Columbia University, New York, NY; and the LuEsther T. Mertz Retinal Research Center, Manhattan Eye, Ear, and Throat Hospital, New York (Drs Klais and Yannuzzi).
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Proteomic Analysis of Exfoliation Deposits
Ovodenko et al.
IOVS 2007;48:1447-1457.
ABSTRACT
| FULL TEXT
Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells
Langton et al.
Hum Mol Genet 2005;14:3579-3586.
ABSTRACT
| FULL TEXT
|
