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Article

Novel pathogenic variants of SLC38A8 gene and literature review.

European journal of ophthalmology - 1 Nov 2024

Ren Xiaofang, Huang Lijuan, Cheng Shan, Wang Jing, Li Ningdong

Abstract excerpt

PURPOSE: This study aimed to analyze the clinical and genetic characteristics of 6 Chinese patients with foveal hypoplasia (FH) caused by the variants of solute carrier family 38 member 8 (SLC38A8), and to describe the genotype and phenotype of SLC38A8 variants from previous literature. METHODS: All subjects underwent comprehensive ophthalmic examinations. Optical coherence tomography (OCT) was performed to...

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PMID: 38515398
DOI: 10.1177/11206721241242155

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