Retinitis pigmentosa (RP)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Retinitis pigmentosa (RP). This is caused by abnormal photoreceptors or retinal pigment epithelium. Fully referenced neurology checklist.
Pathology
- This is caused by abnormal photoreceptors or retinal pigment epithelium
- It may arise from more than 40 genetic mutations
- It may be syndromic or non-syndromic
Genetic transmission
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Syndromic causes
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Central features
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Fundus features
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Investigations
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Emerging treatments
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Other interventional trials
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Acronym
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References
- Ferrari S, Di Iorio E, Barbaro V, Ponzin D, Sorrentino FS, Parmeggiani F. Retinitis pigmentosa: genes and disease mechanisms. Curr Genomics 2011; 12:238-249.
- Natarajan S. Retinitis pigmentosa: a brief overview. Indian J Ophthalmol 2011; 59:343-346.
- Chang S, Vaccarella L, Olatunji S, Cebulla C, Christoforidis J. Diagnostic challenges in retinitis pigmentosa: genotypic multiplicity and phenotypic variability. Curr Genomics 2011; 12:267-275.
- Nishiguchi KM, Avila-Fernandez A, van Huet RA, et al. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology 2014; 121:1620-1627.
- Lin MK, Tsai YT, Tsang SH. Emerging treatments for retinitis pigmentosa: genes and stem cells, as well as new electronic and medical therapies, are gaining ground. Retin Physician 2015; 12:52-70.
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