Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options.
Retinitis pigmentosa (RP) is a leading cause of human blindness due to degeneration of retinal photoreceptor cells. Causes of retinal degeneration include defects in the visual pigment, defects in the proteins important for photoreceptor function or in enzymes involved in initiating visual transduction. Despite the diversity of genetic mutations identified in inherited forms of retinal dystrophy, there is a common end result of photoreceptor death and functional blindness. In this review, pertinent anatomical and physiological pathways involved in RP and the underlying genetic mutations are outlined, including a discussion on the inheritance patterns revealed by advances in molecular biological techniques. Characteristics of progression rates of visual field loss and current management options will provide useful clinical guidelines for the management of patients with RP.
Kalloniatis
Michael
M
Department of Optometry and Vision Science, University of Auckland, Private Bag 92019, Auckland, New Zealand.
Fletcher
Erica L
EL
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017410:Practice Guidelines as Topic; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D014794:Visual Fields