The DOI matches its Crossref record; 352 of the 352 references it cites were found in a registry or an index.
Non-syndromic retinitis pigmentosa
Open accessAbstract
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of visual disability, with a worldwide prevalence of 1:4000. Although the majority of RP cases are non-syndromic, 20-30% of patients with RP also have an associated non-ocular condition. RP typically manifests with night blindness in adolescence, followed by concentric visual field loss, reflecting the principal dysfunction of rod photoreceptors; central vision loss occurs later in life due to cone dysfunction. Photoreceptor function measured with an electroretinogram is markedly reduced or even absent. Optical coherence tomography (OCT) and fundus autofluorescence (FAF) imaging show a progressive loss of outer retinal layers and altered lipofuscin distribution in a characteristic pattern. Over the past three decades, a vast number of disease-causing variants in more than 80 genes have been associated with non-syndromic RP. The wide heterogeneity of RP makes it challenging to describe the clinical findings and pathogenesis. In this review, we provide a comprehensive overview of the clinical characteristics of RP specific to genetically defined patient subsets. We supply a unique atlas with color fundus photographs of most RP subtypes, and we discuss the relevant considerations with respect to differential diagnoses. In addition, we discuss the genes involved in the pathogenesis of RP, as well as the retinal processes that are affected by pathogenic mutations in these genes. Finally, we review management strategies for patients with RP, including counseling, visual rehabilitation, and current and emerging therapeutic options.
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“Ciliopathies can manifest as a non-syndromic disease involving a single organ system, or a pleiotropic disorder that affects multiple organ systems89–91.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [89]
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“Retinitis pigmentosa (RP) is the most common progressive hereditary retinal degeneration, affecting approximately 1 in 4000 people [125].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [125]
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The Role of Vitamin A in Retinal Diseases
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Lipid nanoparticles for the posterior eye segment
Bonilla, L., Espina, M., Severino, P., Cano, A., Ettcheto, M., Camins, A., García, M. L., Souto, E. B., & Sánchez-López, E. (2021) · Pharmaceutics · doi:10.3390/pharmaceutics14010090 · Cited by 76
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Therapy with voretigene neparvovec. How to measure success?
Stingl, K., Kempf, M., Jung, R., Kortüm, F., Righetti, G., Reith, M., Dimopoulos, S., Ott, S., Kohl, S., & Stingl, K. (2023) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2022.101115 · Cited by 48
Metadata
- Authors
- Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J.
- Affiliations
- Radboud University Nijmegen (NL)
- Leiden University Medical Center (NL)
- Radboud University Medical Center (NL)
- Corresponding author
- Klevering, B. Jeroen
- ORCID
- Venue
- Progress in Retinal and Eye Research
- Publisher
- Elsevier BV
- Published
- 2018-09
- Volume
- 66
- Pages
- 157-186
- ISSN
- 1350-9462 (ISSN-L)
- OpenAlex
- W2794919915
- Cited by
- 973
- References
- 352
- Citations by year
- 2026: 99 · 2025: 161 · 2024: 145 · 2023: 136 · 2022: 131 · 2021: 128 · 2020: 85 · 2019: 74 · 2018: 12
- FWCI
- 7.32
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Progress in Retinal and Eye Research (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion, cc-by-nc-nd)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Leiden Repository (Leiden University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- non-syndromic retinitis pigmentosa, inherited retinal disease, rod photoreceptor degeneration, cone photoreceptor degeneration, night blindness, visual field defects, electroretinogram, fundus autofluorescence, lipofuscin, genetic variants, differential diagnosis, color fundus images, visual rehabilitation, gene therapy, counseling
- MeSH terms
- Diagnosis, Differential, Diagnostic Techniques, Ophthalmological, Electroretinography, Eye Proteins, Genotype, Humans, Mutation, Night Blindness, Phenotype, Retinitis Pigmentosa, Vision Disorders, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, Tomography, Optical Coherence
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