ArticleInvestigative ophthalmology & visual science2011
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Article in Investigative ophthalmology & visual science, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 64 citations in OpenAlex.
- Use of a Retinal Phantom to Facilitate Adaptive Optics Scanning Light Ophthalmoscopy Imaging in a Multicenter Clinical Trial.Translational vision science & technology · 2026Trial
- Correlation of outer nuclear layer thickness with cone density values in patients with retinitis pigmentosa and healthy subjects.Investigative ophthalmology & visual science · 2014Trial
- High-resolution adaptive optics retinal imaging of cellular structure in choroideremia.Investigative ophthalmology & visual science · 2014Trial
- Spectral-Domain Optical Coherence Tomography Morphological Characteristics in Patients with Cone Dysfunction Disorders: A Retrospective Case Series.Clinical ophthalmology (Auckland, N.Z.) · 2026Article
- Bilateral Sector Macular Dystrophy Associated withJournal of clinical medicine · 2025Article
- Clinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.Investigative ophthalmology & visual science · 2024Observational
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- Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.Investigative ophthalmology & visual science · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Multimodal Study ofDiagnostics (Basel, Switzerland) · 2022Article
- PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.Human mutation · 2021Article
- Retinal imaging in inherited retinal diseases.Annals of eye science · 2020Article
- Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.Human mutation · 2020Article
- Cellular imaging of inherited retinal diseases using adaptive optics.Eye (London, England) · 2019Review
- Characteristic Ocular Features in Cases of Autosomal Recessive PROM1 Cone-Rod Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Cone Spacing Correlates With Retinal Thickness and Microperimetry in Patients With Inherited Retinal Degenerations.Investigative ophthalmology & visual science · 2019Article
- Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy.The British journal of ophthalmology · 2019Review
- High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.American journal of ophthalmology · 2018Article
- Long term follow-up of a family withInternational journal of ophthalmology · 2018Article
- Low Vision and Plasticity: Implications for Rehabilitation.Annual review of vision science · 2016Review
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
purposeTo study cone photoreceptor structure and function associated with mutations in the second intradiscal loop region of peripherin/RDS.
methodsHigh-resolution macular images were obtained with adaptive optics scanning laser ophthalmoscopy and spectral domain optical coherence tomography in four patients with peripherin/RDS mutations and 27 age-similar healthy subjects. Measures of retinal structure and fundus autofluorescence (AF) were correlated with visual function, including best-corrected visual acuity (BCVA), kinetic and static perimetry, fundus-guided microperimetry, full-field electroretinography (ERG), and multifocal ERG. The coding regions of the peripherin/RDS gene were sequenced in each patient.
resultsHeterozygous mutations in peripherin/RDS were predicted to affect protein structure in the second intradiscal domain in each patient (Arg172Trp, Gly208Asp, Pro210Arg and Cys213Tyr). BCVA was at least 20/32 in the study eye of each patient. Diffuse cone-greater-than-rod dysfunction was present in patient 1, while rod-greater-than-cone dysfunction was present in patient 4; macular outer retinal dysfunction was present in all patients. Macular AF was heterogeneous, and the photoreceptor-retinal pigment epithelial (RPE) junction layer showed increased reflectivity at the fovea in all patients except patient 1, who showed cone-rod dystrophy. Cone packing was irregular, and cone spacing was significantly increased (z-scores >2) at most locations throughout the central 4° in each patient.
conclusionsperipherin/RDS mutations produced diffuse AF abnormalities, disruption of the photoreceptor/RPE junction, and increased cone spacing, consistent with cone loss in the macula. The abnormalities observed suggest that the integrity of the second intradiscal domain of peripherin/RDS is critical for normal macular cone structure.
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