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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)

- 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

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