Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide+4 more
core +1 more source
Retinitis pigmentosa and schizophrenia
SummaryThere have been previous suggestions in the literature of a link between schizophrenia and retinitis pigmentosa (RP) or its associated syndromes. In this article, we describe two cases of schizophrenía and two cases of delusional disorder occurring in patients with RP.
Colm McDonald, T. Larkin, P. Kenna
openaire +3 more sources
Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino+4 more
wiley +1 more source
Widening use of dexamethasone implant for the treatment of macular edema [PDF]
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis.
Avitabile T.+9 more
core +2 more sources
Unilateral retinitis pigmentosa
Objective: To report a rare case of unilateral retinitis pigmentosa and to present the clinical features, and ¿ndings of multifocal ERG and visual field of this case.Case: A 70-year-old-female diagnosed as Retinitis Pigmentosa in right eye 7 years back, presented with further gradual painless diminution of vision in the very eye and without any similar
Bhattarai, D.+4 more
openaire +5 more sources
Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report
Retinitis pigmentosa is characterized by degeneration of the photoreceptors or retinal pigment epithelium and causes progressive vision loss. The disease can lead to night blindness, reduced field of vision and finally to complete loss of vision.
Bożena Kmak+3 more
doaj +1 more source
Fluorescence Lifetime Imaging Techniques—A Review on Principles, Applications and Clinical Relevance
This article gives an overview of the most frequently used fluorescence‐lifetime imaging (FLIM) techniques, their capabilities and typical applications in biology and clinical studies. ABSTRACT This article gives an overview of the most frequently used fluorescence‐lifetime imaging (FLIM) techniques, their capabilities, and typical applications ...
V. I. Shcheslavskiy+5 more
wiley +1 more source
A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration
Mutations that lead to misfolding of rhodopsin can cause retinitis pigmentosa. Here, the authors carry out a high throughput screen to identify a small molecule chaperone of rod opsin, and show that it protects mouse models of retinitis pigmentosa from ...
Yuanyuan Chen+17 more
doaj +1 more source
Automated segmentation of retinal fluid volumes from structural and angiographic optical coherence tomography using deep learning [PDF]
Purpose: We proposed a deep convolutional neural network (CNN), named Retinal Fluid Segmentation Network (ReF-Net) to segment volumetric retinal fluid on optical coherence tomography (OCT) volume. Methods: 3 x 3-mm OCT scans were acquired on one eye by a 70-kHz OCT commercial AngioVue system (RTVue-XR; Optovue, Inc.) from 51 participants in a clinical ...
arxiv +1 more source
The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice. [PDF]
Retinitis pigmentosa is a retinal degenerative disease that leads to blindness through photoreceptor loss. Rhodopsin is the most frequently mutated protein in this disease.
Arshavsky, Vadim Y+5 more
core +1 more source