[Molecular pathology of retinitis pigmentosa].
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.
Ohguro
Hiroshi
H
Department of Ophthalmology, Hirosaki University School of Medicine, 5 Zaifu-cho, Hirosaki 036-8562, Japan.
Maeda
Tadao
T
Yanagihashi
Satsuki
S
Miyakawa
Yasuhiro
Y
Maruyama
Ikuyo
I
Nakazawa
Mitsuru
M
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
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