Albinism or congenital nystagmus

Gene: SLC38A8

Green List (high evidence)

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, 3:19 p.m. | Last Modified: 2 Dec 2020, 3:19 p.m.

Panel Version: 1.6

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)

Associated with foveal hypoplasia (OMIM #615585). Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia, microphthalmia, albinism, or achromatopsia. All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014; PMID 24045842). Relevant publications: Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).

Created: 20 Mar 2019, 4:11 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 AR

Publications

• Poulter el al. 2013 (PMID 24290379), Perez et al. 2014 (PMID 24045842) and Lasseaux et al. 2018 (PMID 29345414).