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Article

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.

Human molecular genetics - 4 Nov 2020

Kuht Helen J, Han Jinu, Maconachie Gail D E, Park Sung Eun, Lee Seung-Tae, McLean Rebecca, Sheth Viral, Hisaund Michael, Dawar Basu, Sylvius Nicolas, Mahmood Usman, Proudlock Frank A, Gottlob Irene, Lim Hyun Taek, Thomas Mervyn G

Abstract excerpt

Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a...

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Identifiers

PMID: 32744312
DOI: 10.1093/hmg/ddaa166
PMCID: PMC7645707

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