Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments
John J. Willoughby, Abbie M. Jensen
doaj +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
In vivo adaptive optics retinal imaging reveals rod-mediated cone photoreceptor disorganization in RHO-associated retinitis pigmentosa. [PDF]
Kaminaka A +13 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
Retbindin Dynamically Redistributes to Preserve Retinal Flavin-Dependent Homeostasis in Response to Riboflavin Availability and Circadian Demand. [PDF]
Zhao X +4 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
Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids. [PDF]
Valenzano R +9 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
Split-spectrum amplitude decorrelation optoretinography for functional imaging of mouse photoreceptors. [PDF]
Matteson A +8 more
europepmc +1 more source
Abstract Purpose Early diagnosis of macular telangiectasia type 2 (MacTel) remains challenging, and the contribution of genetic variation to its clinical heterogeneity is unclear. This study investigated associations between MacTel risk variants and clinical characteristics in a Slovenian cohort.
Ajda Kunčič +4 more
wiley +1 more source

