ArticleBrain : a journal of neurology2019
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
Article in Brain : a journal of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Genome-wide association and multi-omics functional screens reveal the genetic architecture of foveal development.medRxiv : the preprint server for health sciences · 2026Article
- Systematic identification and characterization of regulators of aryl hydrocarbon receptor signaling.bioRxiv : the preprint server for biology · 2025Article
- Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia.Investigative ophthalmology & visual science · 2025Article
- The Aryl Hydrocarbon Receptor in Neurotoxicity: An Intermediator Between Dioxins and Neurons in the Brain.Toxics · 2025Review
- Grading of Foveal Hypoplasia Using Deep Learning on Retinal Fundus Images.Translational vision science & technology · 2025Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.Documenta ophthalmologica. Advances in ophthalmology · 2024Article
- Foveal Hypoplasia inInternational journal of molecular sciences · 2023Article
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
- Comparison of OCT imaging in children with foveal hypoplasia born full term versus preterm.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.Ophthalmology · 2022Observational
- AHRR contributes to inflammatory lymphangiogenesis by activating the EPAS1/VEGFD signaling axis in head and neck cancer.American journal of cancer research · 2022Article
- More than Meets the Eye: The Aryl Hydrocarbon Receptor is an Environmental Sensor, Physiological Regulator and a Therapeutic Target in Ocular Disease.Frontiers in toxicology · 2022Review
- Proper modulation of AHR signaling is necessary for establishing neural connectivity and oligodendrocyte precursor cell development in the embryonic zebrafish brain.Frontiers in molecular neuroscience · 2022Article
- Diet-Host-Microbiota Interactions Shape Aryl Hydrocarbon Receptor Ligand Production to Modulate Intestinal Homeostasis.Annual review of nutrition · 2021Review
- Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.Investigative ophthalmology & visual science · 2021Article
- Biallelic mutations in L-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism.Human genetics · 2021Article
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.BMC ophthalmology · 2021Article
- SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.Human molecular genetics · 2020Article
- Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.Genome medicine · 2020Article
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Authors and funding
17 authors at 9 institutions in 6 countries.
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Abstract
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism, and no anterior segment or brain abnormalities. Upon whole exome sequencing, we identified a homozygous mutation (c.1861C>T;p.Q621*) in the aryl hydrocarbon receptor (AHR) gene that perfectly co-segregated with the disease in the larger family. AHR is a ligand-activated transcription factor that has been intensively studied in xenobiotic-induced toxicity. Further, it has been shown to play a physiological role under normal cellular conditions, such as in immunity, inflammatory response and neurogenesis. Notably, knockout of the Ahr gene in mouse impairs optic nerve myelin sheath formation and results in oculomotor deficits sharing many features with our patients: the eye movement disorder in Ahr-/- mice appears early in development and presents as conjugate horizontal pendular nystagmus. We therefore propose AHR to be a novel disease gene for a new, recessively inherited disorder in humans, characterized by infantile nystagmus and foveal hypoplasia.
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