2.A.18.6.12
Solute carrier family 38, member 8, SLC38A8, expressed only in the eye.  This protein is probably a Na⁺/H⁺-dependent amino acid (glutamine) transporter which when defective, gives rise to foveal hypoplasia associated with congenital nystagmus and reduced visual acuity, FHONDA (Perez et al. 2014). SLC38A8 mutations exhibit  arrest of retinal development at an early stage, resulting in a poorly developed retina with a severe phenotype (Kuht et al. 2020).  Severe arrest of foveal development was identified in patients with variants of SLC38A8, and a brief summary of the clinical and genetic characteristics of the pathogenic SLC38A8 variants has been described (Ren et al. 2024). Thus, foveal hypoplasia (FH) can be caused by variants of SLC38A8 (Ren et al. 2024).