Results 61 to 70 of about 60,943 (273)

Multi‐Disease Detection in Retinal Imaging Using VNet with Image Processing Methods for Data Generation

Advanced Intelligent Systems, EarlyView.
This study introduces a data augmentation method that expands an ophthalmology dataset by 12x, enhancing robustness and reducing overfitting. A novel VNet architecture improves accuracy by 10% over the original dataset and 5% over Grand Challenge benchmarks.
Samad Azimi Abriz, Mansoor Fateh, Fatemeh Jafarinejad, Vahid Abolghasemi   +3 more
wiley   +1 more source

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa

British Journal of Ophthalmology, 2018
Background/Aims To report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in patients with retinitis pigmentosa (RP).
G. Liew, S. Strong, Patrick D. Bradley, P. Severn, A. Moore, A. Webster, P. Mitchell, A. Kifley, M. Michaelides   +8 more
semanticscholar   +1 more source

Unilateral retinitis pigmentosa

Nepalese Journal of Ophthalmology, 2015
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., Paudel, N., Adhikari, P., Gnyawali, S., Joshi, S. N.   +4 more
openaire   +5 more sources

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa

International Journal of Molecular Sciences, 2019
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of diseases with more than 250 causative genes. The most common form is retinitis pigmentosa.
Michalitsa Diakatou, G. Manes, B. Bocquet, I. Meunier, V. Kalatzis   +4 more
semanticscholar   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Macular Hole of the Left Eye in a 41-year-old Patient with Retinitis pigmentosa. A Case Report

Okulistyka
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, Tomasz Siewierski, Anna Szot, Sebastian Sirek   +3 more
doaj   +1 more source

A novel small molecule chaperone of rod opsin and its potential therapy for retinal degeneration

Nature Communications, 2018
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, Yu Chen, Beata Jastrzebska, Marcin Golczak, Sahil Gulati, Hong Tang, William Seibel, Xiaoyu Li, Hui Jin, Yong Han, Songqi Gao, Jianye Zhang, Xujie Liu, Hossein Heidari-Torkabadi, Phoebe L. Stewart, William E. Harte, Gregory P. Tochtrop, Krzysztof Palczewski   +17 more
doaj   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source