Retinitis Pigmentoa Research Paper
Biology 2B03 – Cell Biology November 27, 2011
Retinitis Pigmentosa – Rhodopsin Receptor
Abstract
According to Dryja Ap et. al (1990), A rare disease that causes visual imparity, retinitis pigmentosa, is due to SNP mutations in the rhodopsin receptor. RP varies from the age of onset to its severity of the disease itself. With most cases having a gradual loss of the RPE cells and degradation of the cones and rods photoreceptor cells, nyctalopia and tunnel vision are primary indicators of the disease being present in humans. The rhodopsin mutation consists of a G-T nucleotide substitution at the 152nd position in the amino acid chain. Rhodopsin receptor is a member of the largest G-protein coupled receptors (GPCR), which is more commonly referred to Family A. The mutation causes the protein to misfold, thus resulting in the loss of function for that …show more content…
Early stages include nyctalopia and tunnel vision (Bessant et al, n.d.). Advance stages comprise of complete loss of the central vision. As per Atwood and Finlay (1994) Retinitis Pigmentosa, RP, can be detected at different ages, ranging from birth to early adulthood. The latter incidence usually has more severe affects and reaches the advance stage where the patient experiences complete loss of cones and rods photoreceptor cells. Most patients passing through the advance stages undergo gradual atrophy of the RPE, retinal pigment epithelium. In contrast to severe cases, patients in the early stages suffer from the loss of rod photoreceptor cells, which causes night blindness. In milder cases, peripheral vision is diminished to the point where only central vision is visible (Atwood & Finlay, 1994). RP varies in the type of inheritance, where almost half of the cases are autosomal dominant and the rest vary between autosomal recessive, x-linked and sporadic (Bessant et al,
Retinitis Pigmentosa – Rhodopsin Receptor
Abstract
According to Dryja Ap et. al (1990), A rare disease that causes visual imparity, retinitis pigmentosa, is due to SNP mutations in the rhodopsin receptor. RP varies from the age of onset to its severity of the disease itself. With most cases having a gradual loss of the RPE cells and degradation of the cones and rods photoreceptor cells, nyctalopia and tunnel vision are primary indicators of the disease being present in humans. The rhodopsin mutation consists of a G-T nucleotide substitution at the 152nd position in the amino acid chain. Rhodopsin receptor is a member of the largest G-protein coupled receptors (GPCR), which is more commonly referred to Family A. The mutation causes the protein to misfold, thus resulting in the loss of function for that …show more content…
Early stages include nyctalopia and tunnel vision (Bessant et al, n.d.). Advance stages comprise of complete loss of the central vision. As per Atwood and Finlay (1994) Retinitis Pigmentosa, RP, can be detected at different ages, ranging from birth to early adulthood. The latter incidence usually has more severe affects and reaches the advance stage where the patient experiences complete loss of cones and rods photoreceptor cells. Most patients passing through the advance stages undergo gradual atrophy of the RPE, retinal pigment epithelium. In contrast to severe cases, patients in the early stages suffer from the loss of rod photoreceptor cells, which causes night blindness. In milder cases, peripheral vision is diminished to the point where only central vision is visible (Atwood & Finlay, 1994). RP varies in the type of inheritance, where almost half of the cases are autosomal dominant and the rest vary between autosomal recessive, x-linked and sporadic (Bessant et al,