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Article

The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.

Experimental eye research - 1 Apr 2020

Weiner Chen, Hecht Idan, Rotenstreich Ygal, Guttman Sharon, Or Lior, Morad Yair, Shapira Guy, Shomron Noam, Pras Eran

Abstract excerpt

PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. The aim of this study is to advance the clinical and molecular knowledge of SLC38A8 gene mutations. METHODS: Five Israeli families with congenital foveal hypoplasia were studied, two of Karait Jewish origins and three of Indian...

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PMID: 32032626
DOI: 10.1016/j.exer.2020.107958

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