ArticleScientific reports2020
Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 27 citations in OpenAlex.
- Review
- Effects of genetic factors and visual behaviors on interventions for myopia prevention and control in children: a systematic review and meta-analysis.Translational pediatrics · 2025Article
- "ArmedFrontiers in cell and developmental biology · 2025Review
- Fly Fam161 is an essential centriole and cilium transition zone protein with unique and diverse cell type-specific localizations.Open biology · 2024Article
- Genetic and Clinical Analyses of theGenes · 2024Article
- Fine-tuning FAM161A gene augmentation therapy to restore retinal function.EMBO molecular medicine · 2024Article
- Gene augmentation therapy attenuates retinal degeneration in a knockout mouse model of Fam161a retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Gene augmentation in FAM161A ciliopathy: Toward functional vision rescue.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Retinal Structure and Function in a Knock-in Mouse Model for theOphthalmology science · 2023Article
- Morphological and Functional Comparison of Mice Models for Retinitis Pigmentosa.Advances in experimental medicine and biology · 2023Review
- Mettl14-mediated m6A modification is essential for visual function and retinal photoreceptor survival.BMC biology · 2022Article
- Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon inInternational journal of molecular sciences · 2022Article
- Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- A new mouse model for retinal degeneration due to Fam161a deficiency.Scientific reports · 2021Article
- Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.Frontiers in cell and developmental biology · 2021Article
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Authors and funding
13 authors at 4 institutions in 2 countries.
Funding
Abstract
FAM161A mutations are the most common cause of autosomal recessive retinitis pigmentosa in the Israeli-Jewish population. We aimed to characterize the spectrum of FAM161A-associated phenotypes and identify characteristic clinical features. We identified 114 bi-allelic FAM161A patients and obtained clinical records of 100 of these patients. The most frequent initial symptom was night blindness. Best-corrected visual acuity was largely preserved through the first three decades of life and severely deteriorated during the 4th-5th decades. Most patients manifest moderate-high myopia. Visual fields were markedly constricted from early ages, but maintained for decades. Bone spicule-like pigmentary changes appeared relatively late, accompanied by nummular pigmentation. Full-field electroretinography responses were usually non-detectable at first testing. Fundus autofluorescence showed a hyper-autofluorescent ring around the fovea in all patients already at young ages. Macular ocular coherence tomography showed relative preservation of the outer nuclear layer and ellipsoid zone in the fovea, and frank cystoid macular changes were very rare. Interestingly, patients with a homozygous nonsense mutation manifest somewhat more severe disease. Our clinical analysis is one of the largest ever reported for RP caused by a single gene allowing identification of characteristic clinical features and may be relevant for future application of novel therapies.
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