ArticleDocumenta ophthalmologica. Advances in ophthalmology2018
Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- 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
- Identification of diagnostic challenges in RP1 Alu insertion and strategies for overcoming them.Scientific reports · 2024Article
- Retinitis pigmentosa-1 due to anClinical case reports · 2024Article
- The classification of flash visual evoked potential based on deep learning.BMC medical informatics and decision making · 2023Article
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Genotype-Phenotype Correlations inJournal of clinical medicine · 2021Article
- Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.Orphanet journal of rare diseases · 2021Article
- Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants.Japanese journal of ophthalmology · 2020Article
- Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene.International journal of ophthalmology · 2020Article
- X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.International journal of molecular sciences · 2019Article
- Undetected pituitary adenoma in a patient with retinitis pigmentosa.Chinese neurosurgical journal · 2019Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
purposeThis study reports the ophthalmic and genetic findings of a Japanese patient with autosomal recessive retinitis pigmentosa (arRP) caused by retinitis pigmentosa 1 (RP1) mutations. PATIENT AND
methodsThe 34-year-old female patient and her unaffected parents underwent comprehensive ophthalmic examinations, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography. Fundus autofluorescence was also evaluated in the patient. To identify potential pathogenic variants, 111 inherited eye disease genes were examined by targeted next-generation sequencing.
resultsThe patient had night blindness from the first decade of her life. Fundus examination revealed typical RP findings with additional macular degeneration. Her visual field and acuity were severely affected, and ERG scans showed undetectable responses. Bioinformatics analysis revealed two heterozygous potentially pathogenic variants in RP1 in the patient, one of which is novel. Co-segregation analysis in the unaffected parents confirmed that the two variants were in trans. The parents were both carriers of one RP1 variant but did not show any visual symptoms. Therefore, the identified compound heterozygous variants were proposed as the probable arRP-causing mutations in the family.
conclusionThis is the first description of a Japanese patient with arRP caused by RP1 mutations. Additional data are necessary to more accurately determine the clinical course and mutation spectrum in patients with RP1-related arRP.
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