5 %) were novel. Among the 133 remaining families with no mutation (57.3 %), Fasudil
12 probands were subjected to WES. This allowed to identify 7 additional families with a causative mutation. Conclusion The prevalence of the genes was similar to that of the literature for most genes (e.g. RHO with 16 %), but were unexpected for others (e.g. NR2E3 with 3.9 %). The WES approach allowed us to identify a causative gene in 58.3 % of a population previously screened by direct sequencing approach. The 5 remaining families, negative with WES screen, are potentially carrying a mutation in one or more new adRP genes although an intronic mutation cannot be excluded. These 5 families are under active investigation. ""Purpose SP600125 research buy
The dexamethasone intravitreal implant has shown efficacy in the treatment of macular edema (ME) of non-infectious uveitis and retinal venous occlusions. The aim was to evaluate the efficacy of this implant in the treatment of other diffuse macular edemas with an inflammatory mechanism. Methods Retrospective cohort study over 2 years : from January 2012 to December 2013, including all patients who received at least one injection of intravitreal dexamethasone implant, excluding venous occlusions and non-infectious uveitis. The primary endpoint was the change in visual acuity. Results 80 patients were included. The indications of treatment were : diabetic ME when anti-VEGF were ineffective (53%), ME after retinal detachment(RD)(22%), ME of Irvine Gass syndrome(16%), ME after endophtalmitis(4%), macular telangiectasia(4%), ME of retinitis pigmentosa(1%). The mean ETDRS visual acuity was 53.7 letters before injection, 62.3 letters after injection (p<0.001). The average gain in visual acuity was 6.7 letters [4.5;8.8](p<0.001) in patients treated for diabetic ME, 9.6 letters[6.1;13.1] (p<0.001) for ME after RD, and 15.2 letters[10.2;20.2] (p<0.001) for Irvine Gass syndrome. The mean duration of efficiency was 4.6 months, with a median of 3.8 months. Conclusion The intravitreal implant of dexamethasone appears to be an effective second-line treatment even in patients with diabetic ME after failure of anti-VEGF. It is also effective and well tolerated in patients with ME after RD, and Irvine <a href="http://www.selleckchem.com/products/wnt-c59-c59.html
">C59 wnt chemical structure Gass syndrome. ""Purpose To demonstrate the presence of blood-retinal barrier (BRB) function information within OCT data. Methods It was recently suggested that OCT data embeds functional information on BRB status. In this work a different approach was followed resorting to the use of support vector machines (SVM) to discriminate between healthy (N=31), ETDRS level 10 diabetic retinopathy (DR) (N=31) and diabetic macular edema (DME) eyes (N=31). Healthy volunteers and diabetic patients underwent Cirrus HD-OCT (Carl Zeiss Meditec, Dublin, USA) using both the 512x128 and the 200x200 Macular Cube Protocols.