Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia
Abstract
Foveal hypoplasia (FH) in the absence of albinism, aniridia, microphthalmia, or achromatopsia is exceedingly rare, and the molecular basis for the disorder remains unknown. FH is characterized by the absence of both the retinal foveal pit and avascular zone, but with preserved retinal architecture. SLC38A8 encodes a sodium‐coupled neutral amino acid transporter with a preference for glutamate as a substrate. SLC38A8 has been linked to FH. Here, we describe a novel mutation to SLC38A8 which causes FH, and report the novel use of OCT‐angiography to improve the precision of FH diagnosis. More so, we used computational modeling to explore possible functional effects of known SLC38A8 mutations.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Feb 26, 2017
- Source ID
- 10.1002/mgg3.266
Entities
People
- Alexander G. Bassuk
- Edward Harkness
- Gabriel Velez
- Katherine Boudreault
- Kellie A. Schaefer
- Marcus A. Toral
- Norman Saffra
- Stephen Tsang
- Vinit B. Mahajan
- Yu Xu
Organizations
- Columbia University
- Congressionally Directed Medical Research Programs
- Doris Duke Charitable Foundation
- Foundation Fighting Blindness
- Maimonides Medical Center (Jewish)
- National Institute of General Medical Sciences
- National Institutes of Health
- Research to Prevent Blindness
- University of Iowa
- Université de Montréal