ArticleOrphanet journal of rare diseases2019
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Management of retinitis pigmentosa by Wharton's jelly-derived mesenchymal stem cells: prospective analysis of 1-year results.Stem cell research & therapy · 2020Trial
- Retained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- OCT and Autofluorescence Phenotypic Features in Autosomal DominantVision (Basel, Switzerland) · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- Histone Deacetylase 6 (HDAC6) in Ciliopathies: Emerging Insights and Therapeutic Implications.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in Retinal Development and Disease.Genes · 2023Review
- MERTK missense variants in three patients with retinitis pigmentosa.Ophthalmic genetics · 2023Article
- Unilateral Retinitis Pigmentosa Associated with Possible Ciliopathy and a Novel Mutation.Clinics and practice · 2022Article
- A homozygous in-frame duplication within the LRRCT consensus sequence ofOphthalmic genetics · 2022Article
- Optical coherence tomography in the evaluation of retinitis pigmentosa.Ophthalmic genetics · 2020Review
- Differences in Intraretinal Pigment Migration Across Inherited Retinal Dystrophies.American journal of ophthalmology · 2020Article
- Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.Investigative ophthalmology & visual science · 2020Article
- Management of Retinitis Pigmentosa via Platelet-Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of 1-Year Results.Advances in therapy · 2020Article
- Progressive RPE atrophy and photoreceptor death inOphthalmic genetics · 2020Article
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
backgroundTo evaluate and compare the progression of ciliopathy and non-ciliopathy autosomal recessive Retinitis Pigmentosa patients (arRP) by measuring the constriction of hyperautofluorescent rings in fundus autofluorescence (FAF) images and the progressive shortening of the ellipsoid zone line width obtained by spectral-domain optical coherence tomography (SD-OCT).
resultsFor the ciliopathy group, the estimated mean shortening of the ellipsoid zone line was 259 μm per year and the ring area decreased at a rate of 2.46 mm
conclusionsOur study was able to quantify and compare the loss of EZ line width and short-wavelength autofluorescence (SW-AF) ring constriction progression over time for ciliopathy and non-ciliopathy arRP genes. These results may serve as a basis for modeling RP disease progression, and furthermore, they could potentially be used as endpoints in clinical trials seeking to promote cone and rod survival in RP patients.
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