Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.

ABSTRACT:

Background

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.

Methods

Fundus autofluorescence, SD-OCT, and OCT-angiography

SUBMITTER: Toral MA 

PROVIDER: S-EPMC5441399 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature