ArticleInvestigative ophthalmology & visual science2009
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.
Article in Investigative ophthalmology & visual science, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 76 papers.
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Who cites it
76 citing papers in PubMed, 108 citations in OpenAlex.
- RGR-Mediated Photopic Visual Cycle and Oxidative Stress: Potential Mechanisms for Cone Vision Impairment and Retinal Degeneration in Retinitis Pigmentosa Linked to D1080N-IRBP.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Neuroprotection in Diabetes Retinal Disease: An Unmet Medical Need.International journal of molecular sciences · 2026Review
- Retinol-binding protein 3 in ophthalmology: current evidence, research progress, and future perspectives.Frontiers in immunology · 2026Review
- A comparative transcriptomic analysis provides new insights into the ecological adaptations in Ichthyophis bannanicus.BMC genomics · 2025Article
- Review
- HTRA1-dependent proteolysis induces age-related retinal degeneration and exacerbates choroidal neovascularization.Disease models & mechanisms · 2025Article
- Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy.Investigative ophthalmology & visual science · 2025Article
- Retinoid dynamics in vision: from visual cycle biology to retina disease treatments.Pharmacology & therapeutics · 2025Review
- Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report.Cureus · 2025Article
- Differential Effects of Retinol-Binding Protein 3 and Anti-VEGF Antibodies on Retinal Dysfunctions in Diabetic Retinopathy.Diabetes · 2025Article
- Temporal Regulation of Myopia and Inflammation-Associated Pathways in the Interphotoreceptor Retinoid-Binding Protein Knockout Mouse Model.Current eye research · 2025Article
- CryoEM structure and small-angle X-ray scattering analyses of porcine retinol-binding protein 3.Open biology · 2025Article
- Conditional Knockouts of Interphotoreceptor Retinoid Binding Protein Suggest Two Independent Mechanisms for Retinal Degeneration and Myopia.Investigative ophthalmology & visual science · 2024Article
- Protective Factors and the Pathogenesis of Complications in Diabetes.Endocrine reviews · 2024Review
- RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.American journal of ophthalmology · 2024Article
- Identification of the zebrafish homologues of IMPG2, a retinal proteoglycan.Cell and tissue research · 2023Article
- Towards a New Biomarker for Diabetic Retinopathy: Exploring RBP3 Structure and Retinoids Binding for Functional Imaging of Eyes In Vivo.International journal of molecular sciences · 2023Review
- Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.PLoS genetics · 2023Article
- Rapamycin Inhibits Light-Induced Necrosome Activation Occurring in Wild-Type, but not RPE65-Null, Mouse Retina.Investigative ophthalmology & visual science · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
16 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeInterphotoreceptor retinoid-binding protein (IRBP) has been considered essential for normal rod and cone function, as it mediates the transport of retinoids between the photoreceptors and the retinal pigment epithelium. This study was performed to determine whether mutations in the IRBP gene (RBP3) are associated with photoreceptor degeneration.
methodsA consanguineous family was ascertained in which four children had autosomal recessive retinitis pigmentosa (RP). Homozygosity mapping performed with SNP microarrays revealed only one homozygous region shared by all four affected siblings. Sequencing of RBP3, contained in this region, was performed in this family and others with recessive RP. Screening was also performed on patients with various other forms of retinal degeneration or malfunction.
resultsSequence analysis of RBP3 revealed a homozygous missense mutation (p.Asp1080Asn) in the four affected siblings. The mutation affects a residue that is completely conserved in all four homologous modules of the IRBP protein of vertebrate species and in C-terminal-processing proteases, photosynthesis enzymes found in bacteria, algae, and plants. Based on the previously reported crystal structure of Xenopus IRBP, the authors predict that the Asp1080-mediated conserved salt bridge that appears to participate in scaffolding of the retinol-binding domain is abolished by the mutation. No RBP3 mutations were detected in 395 unrelated patients with recessive or isolate RP or in 680 patients with other forms of hereditary retinal degeneration.
conclusionsMutations in RBP3 are an infrequent cause of autosomal recessive RP. The mutation Asp1080Asn may alter the conformation of the IRBP protein by disrupting a conserved salt bridge.
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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.