ArticleHuman molecular genetics2020
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 40 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- The SLC-ome of membrane transport: from molecular discovery to physiology and clinical applications.Physiological reviews · 2026Review
- Novel Quantitative Metrics for Foveal Hypoplasia Derived from Optical Coherence Tomography Angiography Using AngioTool.Journal of clinical medicine · 2026Article
- Research Progress on the Physiological Functions of Aspartic Acid and Its Applications in Animal Production.Animals : an open access journal from MDPI · 2026Review
- Comparing DNA Methylation Landscapes in Peripheral Blood from Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Long COVID Patients.International journal of molecular sciences · 2025Article
- Grading of Foveal Hypoplasia Using Deep Learning on Retinal Fundus Images.Translational vision science & technology · 2025Article
- Foveal Hypoplasia Grading with Optical Coherence Tomography: Agreement and Challenges Across Experience Levels.Diagnostics (Basel, Switzerland) · 2025Article
- Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases.Nature communications · 2025Article
- Multi-omics analysis in human retina uncovers ultraconserved cis-regulatory elements at rare eye disease loci.Nature communications · 2024Article
- Single-cell multi-omics profiling of human preimplantation embryos identifies cytoskeletal defects during embryonic arrest.Nature cell biology · 2024Article
- Review
- A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects.Investigative ophthalmology & visual science · 2023Article
- A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases.Genes · 2023Review
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
- Foveal Curvature and Its Associations in UK Biobank Participants.Investigative ophthalmology & visual science · 2022Article
- Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.Translational vision science & technology · 2022Article
- Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.Ophthalmology · 2022Observational
- Handheld optical coherence tomography removes barriers to imaging the eyes of young children.Eye (London, England) · 2022Article
- Human Foveal Cone and RPE Cell Topographies and Their Correspondence With Foveal Shape.Investigative ophthalmology & visual science · 2022Article
- The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Investigative ophthalmology & visual science · 2022Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 2 countries.
Funding
Abstract
Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in the retina. Previous studies have been limited due to lack of quantitative data on retinal development and nystagmus characteristics. In this multi-centre study, a custom-targeted next generation sequencing (NGS) gene panel was used to identify SLC38A8 mutations from a cohort of 511 nystagmus patients. We report 16 novel SLC38A8 mutations. The sixth transmembrane domain is most frequently disrupted by missense SLC38A8 mutations. Ninety percent of our cases were initially misdiagnosed as PAX6-related phenotype or ocular albinism prior to NGS. We characterized the retinal development in vivo in patients with SLC38A8 mutations using high-resolution optical coherence tomography. All patients had severe grades of arrested retinal development with lack of a foveal pit and no cone photoreceptor outer segment lengthening. Loss of foveal specialization features such as outer segment lengthening implies reduced foveal cone density, which contributes to reduced visual acuity. Unlike other disorders (such as albinism or PAX6 mutations) which exhibit a spectrum of foveal hypoplasia, SLC38A8 mutations have arrest of retinal development at an earlier stage resulting in a more under-developed retina and severe phenotype.
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Registered trials
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.