ArticleJapanese journal of ophthalmology2020
Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.
Article in Japanese journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 20 citations in OpenAlex.
- Classification of fundus autofluorescence images based on macular function in retinitis pigmentosa using convolutional neural networks.Japanese journal of ophthalmology · 2025Observational
- Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde · 2025Article
- Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.Scientific reports · 2024Article
- Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Biomolecules · 2024Review
- Adaptive optics retinal imaging in patients with usher syndrome.Frontiers in ophthalmology · 2024Article
- Pearls and Pitfalls of Adaptive Optics Ophthalmoscopy in Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Investigating Biomarkers forInternational journal of molecular sciences · 2022Article
- Short-Term Parafoveal Cone Loss Despite Preserved Ellipsoid Zone in Rod Cone Dystrophy.Translational vision science & technology · 2021Observational
- Ocular findings in Japanese patients with hydroxychloroquine retinopathy developing within 3 years of treatment.Japanese journal of ophthalmology · 2021Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- High-resolution images in macular disorders.Romanian journal of ophthalmologyArticle
- Circular Perivascular Autofluorescence Pattern in Patients With Autoimmune Retinopathy.Journal of vitreoretinal diseasesArticle
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
purposeTo report the clinical course and high resolution images of autosomal recessive retinitis pigmentosa (RP) associated with a variant of the RP1 gene (c.4052_4053ins328/p.Tyr1352Alafs*9; m1), a high frequency founder variant in Japanese RP patients. STUDY
designRetrospective case series.
methodsNine patients from 5 unrelated Japanese families were studied. Five patients had the m1 variant homozygously, and 4 patients had the m1 variant compound heterozygously with another frameshift variant (c.4196delG/p.Cys1399Leufs*5). Ophthalmic examinations including adaptive optics (AO) fundus imaging were performed periodically.
resultsThe fundus photographs, fundus autofluorescence (FAF) images, and optical coherence tomographic (OCT) images indicated severe retinal degeneration in all the patients involving the macula even at a young age (20 s). The areas of surviving photoreceptors in the central macula were seen as hyper-autofluorescent regions in the FAF images and preserved outer retinal structure in the OCT images; they were identifiable in the AO fundus images in 8 eyes. The borders of the surviving photoreceptor areas were surrounded by hyporeflective clumps, presumably containing melanin, and the size of these areas decreased progressively during the 4-year follow-up period. The disappearance of the surviving photoreceptor areas was associated with complete blindness.
conclusionPatients with RP associated with the m1 variant have a progressive and severe retinal degeneration that begins at an early age. Monitoring the surviving photoreceptor areas by AO fundus imaging can provide a more precise pathological record of retinal degeneration.
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