Cited by 973Retinal Development and DisordersRetinal Diseases and TreatmentsGenetic and Kidney Cyst Diseases

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Non-syndromic retinitis pigmentosa

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Verbakel, Sanne K., van Huet, Ramon A.C., Boon, Camiel J.F., den Hollander, Anneke I., Collin, Rob W.J., Klaver, Caroline C.W., Hoyng, Carel B., Roepman, Ronald, Klevering, B. Jeroen·2018·Progress in Retinal and Eye Research

DOI 10.1016/j.preteyeres.2018.03.005

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Abstract

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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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: Verbakel, Sanne K.
Boon, Camiel J.F.
den Hollander, Anneke I.
Collin, Rob W.J.
Klaver, Caroline C.W.
Hoyng, Carel B.
Roepman, Ronald
Klevering, B. Jeroen
Venue: Progress in Retinal and Eye Research
Publisher: Elsevier BV
Published: 2018-09
Volume: 66
Pages: 157-186
ISSN: 1350-9462 (ISSN-L)
DOI: 10.1016/j.preteyeres.2018.03.005
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: cc-by-nc-nd
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by-nc-nd/4.0/ (vor)
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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