ArticleEuropean journal of human genetics : EJHG2014
Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 54 citations in OpenAlex.
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Article
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia.Ophthalmology science · 2023Article
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Investigative ophthalmology & visual science · 2022Article
- Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.Investigative ophthalmology & visual science · 2021Article
- Novel compound heterozygous variants of tyrosinase gene in an isolated foveal hypoplasia patient without nystagmus.Journal of human genetics · 2021Article
- Novel Biallelic Variants and Phenotypic Features in Patients withInternational journal of molecular sciences · 2021Article
- SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.Human molecular genetics · 2020Article
- Autosomal dominant foveal hypoplasia without visible macular abnormalities and PAX6 mutations.Japanese journal of ophthalmology · 2020Review
- Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.European journal of ophthalmology · 2020Article
- Amino Acid Transport Defects in Human Inherited Metabolic Disorders.International journal of molecular sciences · 2019Review
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- [Retinal thickening in a 6-year-old boy].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019Article
- Mutations in the microtubule-associated protein MAP11 (C7orf43) cause microcephaly in humans and zebrafish.Brain : a journal of neurology · 2019Article
- Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.JAMA ophthalmology · 2017Article
- Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.European journal of human genetics : EJHG · 2017Article
- Structural modeling of a novelMolecular genetics & genomic medicine · 2017Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity mapping followed by fine mapping defined a 830 Kb disease-associated locus (LOD score 3.5). Whole-exome sequencing identified a single missense mutation in the homozygosity region: c.95T>G, p.(Ile32Ser), in a conserved amino acid within the first predicted transmembrane domain of SLC38A8. The mutation fully segregated with the disease-associated phenotype, demonstrating an ∼10% carrier rate in Mumbai Jews. SLC38A8 encodes a putative sodium-dependent amino-acid/proton antiporter, which we showed to be expressed solely in the eye. Thus, a homozygous SLC38A8 mutation likely underlies isolated foveal hypoplasia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.