Signal transduction in the retina and inherited retinopathies.
In this paper, an attempt is made to highlight some of the recent developments in genetics to understand the group of inherited eye disorders referred to as retinitis pigmentosa (RP). Of the seven genes identified, six are expressed specifically in the photoreceptor cells and four encode the enzymes involved in the phototransduction pathway. A short discussion is presented of the tremendous phenotypic heterogeneity. An understanding of RP requires knowledge of other genetic and environmental factors as well as tests to measure the status of the patient's photoreceptor cells in various disease stages.
Shastry
B S
BS
Eye Research Institute, Oakland University, Rochester, Michigan 48309, USA.
D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics; D000818:Animals; D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins / Q000235:genetics; D006801:Humans; D007381:Intermediate Filament Proteins / Q000235:genetics; D007473:Ion Channels / Q000235:genetics; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins; D064531:Peripherins; D012160:Retina / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000378:metabolism; D012243:Rhodopsin / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D059470:Tetraspanins; D015293:Transducin / Q000235:genetics
D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D007473:Ion Channels; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D064531:Peripherins; C513106:ROM1 protein, human; D059470:Tetraspanins; D012243:Rhodopsin; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D015293:Transducin