Sentences with phrase «pigmentosa which»

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Patients that have a defective gene called RPE65 — which is responsible for producing a protein that makes light receptors in the eye — suffer from leber congenital amaurosis and retinitis pigmentosa, yet now have hope.
The Duke scientists first examined the retinas of young rats that were genetically predisposed to an eye disease which causes progressive blindness similar to a disorder called retinitis pigmentosa in humans.
Samantha de Silva and colleagues used a viral vector to express a light sensitive protein, melanopsin, in the residual retinal cells in mice which were blind from retinitis pigmentosa, the most common cause of blindness in young people.
Genetic defects cause photoreceptor degeneration, which are majorly classified into rod - cone dystrophy called retinitis pigmentosa (rods initially degenerate, followed by cone degeneration), cone - rod dystrophy (cone degeneration, followed by rod degeneration), and Leber congenital amaurosis (LCA).
But someday all of them could offer a valid treatment for retinitis pigmentosa as well as for age - related macular degeneration, which gradually destroys photoreceptors in the center of the retina and is the leading cause of blindness in adults over age 55.
Cell therapy, as envisaged by the teams of I - Stem, is primarily based on the identification of experimental protocols that can specifically guide differentiation of pluripotent cells to a cell fate, which presents a interest for the replacement of the defective cell population from the patient (the striatal neurons for Huntington's disease, the cells of the retinal pigment epithelium for retinitis pigmentosa, keratinocytes for genodermatoses, etc.).
Thus it was fascinating to see positive selection on genes like CHM and CNGB3, in which mutations can cause retinal diseases featuring night blindness (i.e. choroideremia and retinitis pigmentosa) in humans.
We recently described retinal regeneration in rd10 mice, which is a model of retinitis pigmentosa, a severe disease that affects a large number of individuals and that results in progressive loss of vision (Sanges et al JCI 2010).
Although Gund lost his sight in 1970 from retinitis pigmentosa, his sculpting process results in elegant forms and highly polished surfaces which are a delight to touch and behold.
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