Structural eye disease

Gene: SLC38A8

PMID: 32744312 Kuht et al 2020 - used a custom-targeted next generation sequencing gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. They report 16 novel SLC38A8 mutations in 11 subjects from nine families. 2 families had homozygous variants, the other 7 had compound het variants. There was a mixture of missense, splice variants and nonsense variants. 90% of cases were initially misdiagnosed, prior to NGS, as PAX6-related phenotype or ocular albinism. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening.

Created: 2 Dec 2020, 3:22 p.m. | Last Modified: 2 Dec 2020, 3:22 p.m.

Panel Version: 1.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis OMIM:609218; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216

Publications

• 32744312

Green List (high evidence)

FC - PMID: 24045842 reports biallelic mutations in 7 families with foveal hypoplasia, with 3/7 also with anterior segment dysgenesis plus zebrafish

Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; 609218

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). FC - PMID: 24045842 reports biallelic mutations in 7 families with foveal hypoplasia, with 3/7 also with anterior segment dysgenesis plus zebrafish

Created: 17 Apr 2019, 3:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis; 609218