Photoreceptor cells are susceptible to cellular stress - their degeneration and loss is a major cause of blindness. Many genes have identified for the inherited and highly heterogeneous disorders resulting and its patterns of inheritance are varied - some are autosomal dominant (adRP), others are autosomal recessive (arRP), a smaller fraction are X-linked (XLRP) and between 30 to 50% have not yet been classified. Other disorders include Bardet-Biedl syndrome (BBS), macular and age-related macular degeneration (MD, AMD), Leber congenital amaurosis (LCA), cone and cone-rod degeneration (CD, CRD).
Read entire article and learn more about pathways.
References Associated with the retinitis pigmentosa pathway:
Daiger SP, et al. | Clin Genet | 2013 Aug | 84(2) | 132-41 | doi: 10.1111/cge.12203
Wright AF, et al. | Nat Rev Genet | 2010 Apr | 11(4) | 273-84 | doi: 10.1038/nrg2717
Athanasiou D, et al. | FEBS Lett | 2013 Jun 27 | 587(13) | 2008-17 | doi: 10.1016/j.febslet.2013.05.020
Mendes HF, et al. | Trends Mol Med | 2005 Apr | 11(4) | 177-85
Jones BW, et al. | Jpn J Ophthalmoly | 2012 July | 56(4) | 289-306 | doi: 10.1007/s10384-012-0147-2
Petrs-Silva H and Linden R | Clin Ophthalmoly | 2014 | 8:127-136.
Estrada-Cuzcano A, et al. | Hum Mol Genet | 2012 Oct 15 | 21(R1) | R111-24
Xu S | Prog Retin Eye Res | 2009 Mar | 28(2) | 87-116 | doi: 10.1016/j.preteyeres.2008.11.003
Liu MM, et al. | Curr Genomics | 2013 May | 14(3) | 166-72 | doi: 10.2174/1389202911314030002
Huang KM, et al. | Mamm Genome | 2008 Aug | 19(7-8) | 510-6 | doi: 10.1007/s00335-008-9127-8
Pan L and Zhang M | Physiology (Bethesda) | 2012 Feb | 27(1) | 25-42 | doi: 10.1152/physiol.00037.2011