Identification and validation of a novel ferroptosis-related gene signature associated with inherited retinal degeneration in Rd10 mice. [PDF]
Qiu X +11 more
europepmc +1 more source
Abstract Introduction The increasing number of patients with diabetes has increased the incidence of diabetic macular oedema (DME) with the accompanying risk of developing visual loss. The purpose of the present study was to describe the contributions of increased central retinal thickness (CRT) and other risk factors to the reduction in visual acuity ...
Signe Krejberg Jeppesen, Toke Bek
wiley +1 more source
Biallelic loss-of-function variants in <i>C19orf44</i> lead to retinal degeneration. [PDF]
Hussain HMJ +14 more
europepmc +1 more source
Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery +17 more
wiley +1 more source
Quadrant asymmetry alteration of retinal degeneration in thyroid-associated ophthalmopathy. [PDF]
Liu W +6 more
europepmc +1 more source
Clinical manifestations of dual‐gene variants in retinitis pigmentosa
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram +11 more
wiley +1 more source
Comprehensive transcriptomic analysis reveals canonical and novel pathways modulated by nanoceria in mammalian retinal degeneration. [PDF]
Donato L +10 more
europepmc +1 more source
Retinal dystrophies simulating geographic atrophy: A diagnostic challenge
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn +3 more
wiley +1 more source
RNA Sequencing and Targeted Knockdown Reveal miR-142a-5p as a Driver of Retinal Degeneration in rd1 Mice. [PDF]
Yang N +8 more
europepmc +1 more source
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina +7 more
wiley +1 more source

