Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.
Anterior segment dysgenesis
Chiasmal misrouting
Full-field electroretinography
SLC38A8
Visual evoked potential
Journal
Documenta ophthalmologica. Advances in ophthalmology
ISSN: 1573-2622
Titre abrégé: Doc Ophthalmol
Pays: Netherlands
ID NLM: 0370667
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
received:
02
03
2021
accepted:
13
05
2021
pubmed:
27
5
2021
medline:
15
12
2021
entrez:
26
5
2021
Statut:
ppublish
Résumé
To characterize the clinical and genetic features of a Japanese male patient with foveal hypoplasia caused by a homozygous single nucleotide duplication in the SLC38A8 gene. We performed a comprehensive ophthalmic examination including full-field electroretinography (FF-ERG) and pattern-reversal visual evoked potentials (PR-VEPs). Whole-exome sequencing (WES) was performed to identify the disease-causing variant; Sanger sequencing was used for confirmation. In the WES analysis, a homozygous single nucleotide duplication (c.995dupG; p.Trp333MetfsTer35) was identified in SLC38A8 of the patient. His unaffected mother carried the variant heterozygously. The patient exhibited hyperopia, congenital nystagmus, low visual acuity, and grade 4 foveal hypoplasia. Slit-lamp examination revealed mild posterior embryotoxon and goniodysgenesis. Fundus examination revealed the absence of foveal hyperpigmentation and foveal avascularity, but there were no retinal degenerative lesions. In the FF-ERG, the amplitudes of rod ERG, standard-flash, and bright-flash ERG were within the normal range; cone-mediated responses also showed nearly normal amplitudes. The PR-VEP findings revealed delayed P100 latencies and decreased amplitudes of the P100 components, but no chiasmal misrouting. This report is the first report on the clinical and genetic characteristics of SLC38A8-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.
Identifiants
pubmed: 34037952
doi: 10.1007/s10633-021-09842-y
pii: 10.1007/s10633-021-09842-y
doi:
Substances chimiques
Amino Acid Transport Systems, Neutral
0
Nucleotides
0
Slc38a8 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
323-330Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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