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 |
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