|
Retinal degeneration is the deterioration of the retina〔http://bioweb.uwlax.edu/bio203/s2007/berends_bets/glossary_of_terms.htm〕 caused by the progressive and eventual death of the cells of the retina.〔http://www.optigen.com/opt9_glossary.html〕 There are several reasons for retinal degeneration, including artery or vein occlusion, diabetic retinopathy, R.L.F./R.O.P. (retrolental fibroplasia/ retinopathy of prematurity), or disease (usually hereditary).〔http://www.tsbvi.edu/Education/anomalies/Retinal_degeneration.htm〕 These may present in many different ways such as impaired vision, night blindness, retinal detachment, light sensitivity, tunnel vision, and loss of peripheral vision to total loss of vision.〔http://www.wrongdiagnosis.com/r/retinal_degeneration/symptoms.htm〕 Of the retinal degenerative diseases retinitis pigmentosa (RP) is a very important example. Inherited retinal degenerative disorders in humans exhibit genetic and phenotypic heterogeneity in their underlying causes and clinical outcomes *. These retinopathies affect approximately one in 2000 individuals worldwide. A wide variety of causes have been attributed to retinal degeneration, such as disruption of genes that are involved in phototransduction, biosynthesis and folding of the rhodopsin molecule, and the structural support of the retina.〔 Mutations in the rhodopsin gene account for 25% to 30% (30% to 40% according to) of all cases of autosomal dominant retinitis pigmentosa (adRP) 〔 in North America There are many mechanisms of retinal degeneration attributed to rhodopsin mutations or mutations that involve or affect the function of rhodopsin. One mechanism of retinal degeneration is rhodopsin overexpression. Another mechanism, whereby a mutation caused a truncated rhodopsin, was found to affect rod function and increased the rate of photoreceptor degeneration.〔 * *For example, a single peripherin/RDS splice site mutation was identified as the cause of retinopathy in eight families; the phenotype in these families ranged from retinitis pigmentosa to macular degeneration.〔 ==Photoreceptor cell death== Photoreceptor cell death is the eventual outcome of retinal degeneration. Without proper function of the photoreceptor cells, vision is not possible. Irreversible loss of these cells has been attributed as a cause of blindness in many retinal degenerative disorders, including RP. The exact mechanism of photoreceptor cell death is not clearly understood.〔 Among potential causes is the endocytosis of stable complexes formed between rhodopsin and its regulatory protein arrestin in certain mutants.〔 Various studies have also documented that over-expression of rhodopsin itself (mutations in genes involved in the termination of rhodopsin signaling activity have been shown to cause degeneration by persistent activation of the phototransduction cascade ) causes photoreceptor cell death and may induce photoreceptor cell loss in transgenic animals expressing truncated rhodopsin. Yet another mechanism may be prolonged photoreceptor responses and also abnormal rhodopsin deactivation may induce outer segment shortening and eventual photoreceptor death 〔 In RP photoreceptor cell death is believed to occur by programmed cell death or apoptosis.〔〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Retinal degeneration (rhodopsin mutation)」の詳細全文を読む スポンサード リンク
|