Retinitis pigmentosa (RP, MIM# 268000) is a heterogeneous group of genetic disorders, characterized by the degeneration of rod and cone photoreceptors. The earliest clinical manifestation of RP is night blindness, progressing to reduction in mid-peripheral visual field. As the disease becomes worse, the patients develop tunnel vision and eventually lose central vision. Other clinical features include bone spicule fundus deposits, attenuated retinal arterioles, optic disk pallor, absent or subnormal electroretinogram (ERG) amplitudes. The prevalence of RP is in the region of 1 in 3500-4000 in most populations. Most cases result from one of a series of monogenic disorders inherited in an autosomal-dominant, autosomol-recessive, or X-linked manner . Oligogenic inheritance and mitochondrial inheritance have been established in a small proportion of RP cases. More than 53 genetic loci are associated with RP, 46 genes have been identified, 18 genes for autosomal dominant RP, 26 for autosomal recessive RP and 2 for X-linked RP (http://www.sph.uth. tmc.edu/Retnet/). Most causing genes are only responsible for a small proportion of cases, but mutations in the rhodopsin gene (RHO) cause about 25% of autosomal dominant RP, the USH2A gene accounts for about 20% of autosomal recessive RP, and the RPGR gene accounts for about 60-75% of the X-linked RP families.
Citation: Raghupathy RK, Patnaik SR, Shu X (2013) Transgenic Zebrafish Models for Understanding Retinitis Pigmentosa. Clon Transgen 2: 110. doi:10.4172/2168- 9849.1000110