Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report

ConclusionsThis report is the first report on the clinical and genetic characteristics ofSLC38A8-associated foveal hypoplasia in the Japanese population. This is also the first report of normal rod- and cone-mediated responses in a patient with this disorder.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research