Syndromic retinitis pigmentosa.
Open accessAbstract
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives. Given the diverse clinical and genetic landscape of syndromic RP, the diagnosis may be challenging. However, an accurate and timely diagnosis is essential for optimal clinical management, prognostication, and potential treatment. Broadly, the syndromes associated with RP can be categorized into ciliopathies, inherited metabolic disorders, mitochondrial disorders, and miscellaneous syndromes. Among the ciliopathies associated with RP, Usher syndrome and Bardet-Biedl syndrome are the most well-known. Less common ciliopathies include Cohen syndrome, Joubert syndrome, cranioectodermal dysplasia, asphyxiating thoracic dystrophy, Mainzer-Saldino syndrome, and RHYNS syndrome. Several inherited metabolic disorders can present with RP, including Zellweger spectrum disorders, adult Refsum disease, α-methylacyl-CoA racemase deficiency, certain mucopolysaccharidoses, ataxia with vitamin E deficiency, abetalipoproteinemia, several neuronal ceroid lipofuscinoses, mevalonic aciduria, PKAN/HARP syndrome, PHARC syndrome, and methylmalonic acidaemia with homocystinuria type cobalamin (cbl) C disease. Due to the mitochondria's essential role in supplying continuous energy to the retina, disruption of mitochondrial function can lead to RP, as seen in Kearns-Sayre syndrome, NARP syndrome, primary coenzyme Q10 deficiency, SSBP1-associated disease, and long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Lastly, Cockayne syndrome and PERCHING syndrome can present with RP, but they do not fit the abovementioned hierarchy and are thus categorized as miscellaneous. Several first-in-human clinical trials are underway or in preparation for some of these syndromic forms of RP.
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Retinal dystrophy is one of the early clinical features in RDLKD patients and occurs even in those with only mild motor or cognitive impairments.
“In contrast, retinal dystrophy is one of the early clinical features in RDLKD patients and occurs, as also reported for less severe cases of the Zellweger spectrum (Karuntu et al., 2024), even in those with only mild motor or cognitive impairments (Al Shamsi et al., 2025).”
From The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models (2025) · cites this paper as Karuntu et al., 2024
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The neurological pathology of peroxisomal ACBD5 deficiency – lessons from patients and mouse models
Dawes, M. L., Haberlander, J. P., Islinger, M., & Schrader, M. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1602343 · Cited by 7 · see citing works
- Authors
- Karuntu, J. S., Almushattat, H., Nguyen, X.-T.-A., Plomp, A. S., Wanders, R. J. A., Hoyng, C. B., van Schooneveld, M. J., Schalij-Delfos, N. E., Brands, M. M., Leroy, B. P., van Karnebeek, C. D. M., Bergen, A. A., van Genderen, M. M., & Boon, C. J. F.
- Affiliations
- Leiden University Medical Center (NL)
- Amsterdam University Medical Centers (NL)
- Amsterdam UMC Location University of Amsterdam (NL)
- Radboud University Medical Center (NL)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Boon, Camiel J.F.
- ORCID
- Venue
- Progress in Retinal and Eye Research
- Publisher
- Elsevier BV
- Published
- 2025-07
- Volume
- 107
- Pages
- 101324
- ISSN
- 1350-9462 (ISSN-L)
- OpenAlex
- W4405846976
- Cited by
- 39
- References
- 29
- Citations by year
- 2026: 26 · 2025: 13
- FWCI
- 1.59
- 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)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- inherited retinal disease, photoreceptor degeneration, ciliopathies, Usher syndrome, Bardet-Biedl syndrome, inborn errors of metabolism, mitochondrial disease, Zellweger spectrum disorder, Refsum disease, neuronal ceroid lipofuscinosis, Kearns-Sayre syndrome, NARP syndrome, Cockayne syndrome, differential diagnosis, genetic diagnosis, clinical management
- MeSH terms
- Ciliopathies, Humans, Retinitis Pigmentosa, Syndrome
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