Fundus autofluorescence and ellipsoid zone (EZ) line width can be an outcome measurement in RHO-associated autosomal dominant retinitis pigmentosa

Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations

“…Movement of TZ over time is likely driven by non-autonomous cell death mechanisms acting within or across photoreceptor types [75][76][77][78][79][80][81][82][83][84] . Importantly, definition of the TZ varies across investigations and can include some aspect of visual function 11,52,[85][86][87] , RPE atrophy or demelanization 13,73,[88][89][90] , extent of normal ONL thickness 71,87,91 , or the extent of the IS/OS signal detectability on OCT which demarcates severe OS abnormality 12,13,89,[92][93][94][95] . In a previous investigation, we showed that spatial progression of TZ as defined by the detectability of the IS/OS signal was greatest in the superior retina over a 2-year interval in Class B RHO-adRP 13 .…”

Management of retinitis pigmentosa by Wharton’s jelly-derived mesenchymal stem cells: prospective analysis of 1-year results

“…Genetic mutations that lead to retinitis pigmentosa can occur or be transferred by autosomal dominant (AD), autosomal recessive (AR), X-linked, mitochondrial, mosaic, or sporadic inheritance [9][10][11][12][13][14][15][16][17][18][19][20][21][22]. Rhodopsin and opsin are the major protein products which synthesized in the photoreceptors [18][19][20]. Photoreceptors also need lipoproteins and glycoproteins, which are part of the disc membranes for the transfer of functional proteins involved in the visual cycle [13][14][15].…”

“…These proteins have a longer or shorter chain structure compared to normal proteins. The high level of mutant proteins with folding problems in the cell becomes difficult to remove by phagocytosis and autophagy [ 18 – 20 ]. If the level of mutant proteins in the cell reaches to toxic levels, oncosis (swelling), inflammation, and apoptosis mechanisms are triggered [ 72 ].…”

“…Today, 260 different mutations detected in these 90 genes have been shown to lead to RP [9,10]. Retinitis pigmentosa is a rare and very heterogeneous disease [11][12][13][14][15][16][17][18][19][20][21][22]. For this reason, gene therapy has many unknowns and is not cost-effective [10,23].…”

Management of Retinitis Pigmentosa via Platelet Rich Plasma or Combination with Electromagnetic Stimulation: Retrospective Analysis of One-year Results

“…Acquired factors such as nutrition, smoking, anemia, pregnancy, as well as long-term exposure to ultraviolet and blue light also affect the course of the disease [2][3][4]. Autosomal dominant inheritance shows the slowest progression with an average annual loss of 5% photoreceptors [20,21]. X-linked inheritance shows the fastest progression with an average annual loss of 15% of photoreceptors [21,22].…”