title: [Molecular pathology of retinitis pigmentosa].
abstract: BACKGROUND
  Retinitis pigmentosa (RP) is primary, chronic, and hereditary chorioretinal degeneration characterized by photopsia, progressive visual loss with ring scotoma, and impairment of dark adaptation. Although modern molecular biology and molecular genetics have identified many causative genes, the molecular pathophysiology of RP is not fully understood, and no effective treatments have been found yet. In recent studies using animal models of RP, new treatments have been devised and their clinical use is being considered.
  
  
  METHODS
  In terms of the molecular pathophysiology of RP, we summarized previous studies of genetic impairment of proteins involved in the phototransduction pathway and introduced new possible therapies for RP.
  
  
  RESULTS
  We found that most abnormalities of the genes related with the photoxcitation and its inhibition process in the photoreceptor cells caused a variety of clinical manifestations of RP.
  
  
  CONCLUSIONS
  So far, a variety of abnormalities of the genes causing RP have been identified. However, further studies of the relationship between the abnormalities and clinical expression are needed for better understanding of the pathophysiology of RP.
authors.affiliation: Department of Ophthalmology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ohguro
authors.forename: Tadao
authors.initials: T
authors.lastname: Maeda
authors.forename: Satsuki
authors.initials: S
authors.lastname: Yanagihashi
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Miyakawa
authors.forename: Ikuyo
authors.initials: I
authors.lastname: Maruyama
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Nakazawa
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000502:physiology; D019393:Arrestin / Q000502:physiology; D002352:Carrier Proteins / Q000502:physiology; D005136:Eye Proteins / Q000502:physiology; D006801:Humans; D007381:Intermediate Filament Proteins / Q000502:physiology; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins / Q000502:physiology; D064531:Peripherins; D012174:Retinitis Pigmentosa / Q000188:drug therapy / Q000235:genetics*; D012243:Rhodopsin / Q000502:physiology
chemical_list: C020932:11-cis-retinal-binding protein; D019393:Arrestin; D002352:Carrier Proteins; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; C105443:TULP1 protein, human; D012243:Rhodopsin; D015106:3',5'-Cyclic-GMP Phosphodiesterases