[HTML][HTML] Current concepts in the treatment of retinitis pigmentosa

MA Musarella, IM MacDonald - Journal of ophthalmology, 2011 - hindawi.com
MA Musarella, IM MacDonald
Journal of ophthalmology, 2011hindawi.com
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital
amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the
genes which are mutated in these conditions are expressed in either photoreceptors or the
retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of
these conditions; the most severe being autosomal recessive LCA, a heterogeneous retinal
degenerative disease and the commonest cause of congenital blindness in children. Here …
Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), affect 1 in 4000 individuals in the general population. A majority of the genes which are mutated in these conditions are expressed in either photoreceptors or the retinal pigment epithelium (RPE). There is considerable variation in the clinical severity of these conditions; the most severe being autosomal recessive LCA, a heterogeneous retinal degenerative disease and the commonest cause of congenital blindness in children. Here, we discuss all the potential treatments that are now available for retinal degeneration. A number of therapeutic avenues are being explored based on our knowledge of the pathophysiology of retinal degeneration derived from research on animal models, including: gene therapy, antiapoptosis agents, neurotrophic factors, and dietary supplementation. Technological advances in retinal implant devices continue to provide the promise of vision for patients with end-stage disease.
hindawi.com