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retinitis pigmentosa
Monday 20 October 2003
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences.
Depending on the type of RP, and the technology used, it is possible to detect mutations in 30-80% of cases.
One of the most powerful approaches to genetic testing is high-throughput ’deep sequencing’, that is, next-generation sequencing (NGS). NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP.
Apparent discrepancy between the molecular defect and clinical findings may warrant reevaluation of patients and families. In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease.
Classification
autosomal dominant retinitis pigmentosa (ADRP)
- rhodopsin-associated retinitis pigmentosa (RHO)
- TOPORS-associated retinitis pigmentosa (17924349)
autosomal recessive retinitis pigmentosa (ARRP) X-linked retinitis pigmentosa (XLRP) (14564670)
- RP2-associated retinitis pigmentosa
- RPGR-associated retinitis pigmentosa
Loci
40 morbid loci have been described (2008).
| RP1 |
| RP2 |
| RP3 |
| RP4 |
| RP5 |
| RP6 |
| RP7 |
| RP8 |
| RP9 |
| RP10 |
| RP11 |
| RP12 |
| RP13 |
| RP14 |
| RP15 |
| RP16 |
| RP17 |
| RP18 |
| RP19 |
| RP20 |
| RP21 |
| RP22 |
| RP23 |
| RP24 |
| RP25 |
| RP26 |
| RP27 |
| RP28 |
| RP29 |
| RP30 |
| RP31 |
| RP32 |
| RP33 |
| RP34 |
| RP35 |
| RP36 |
| RP37 |
| RP38 |
| RP39 |
| RP40 |
Open references
Genes and mutations causing retinitis pigmentosa. Daiger SP, Sullivan LS, Bowne SJ. Clin Genet. 2013 Aug;84(2):132-41. doi : 10.1111/cge.12203 PMID: 23701314 [Free]
References
Chakarova CF, Papaioannou MG, Khanna H, Lopez I, Waseem N, Shah A, Theis T, Friedman J, Maubaret C, Bujakowska K, Veraitch B, El-Aziz MM, Prescott de Q, Parapuram SK, Bickmore WA, Munro PM, Gal A, Hamel CP, Marigo V, Ponting CP, Wissinger B, Zrenner E, Matter K, Swaroop A, Koenekoop RK, Bhattacharya SS. Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy. Am J Hum Genet. 2007 Nov;81(5):1098-103. PMID: 17924349
References
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006 Nov 18;368(9549):1795-809. PMID: 17113430
Fain GL. Why photoreceptors die (and why they don’t). Bioessays. 2006 Apr;28(4):344-54. PMID: 16547945
Mendes HF, van der Spuy J, Chapple JP, Cheetham ME. Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med. 2005 Apr;11(4):177-85. PMID: 15823756
Kennan A, Aherne A, Humphries P. Light in retinitis pigmentosa. Trends Genet. 2005 Feb;21(2):103-10. PMID: 15661356
Hims MM, Diager SP, Inglehearn CF. Retinitis pigmentosa: genes, proteins and prospects. Dev Ophthalmol. 2003;37:109-25. PMID: 12876833
Rivolta C, Sharon D, DeAngelis MM, Dryja TP. Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet. 2002 May 15;11(10):1219-27. Review. Erratum in: Hum Mol Genet. 2003 Mar 1;12(5):583-4. PMID: 12015282
van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA. Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol. 1999 Jan-Feb;43(4):321-34. PMID: 10025514
