Results 61 to 70 of about 9,124 (223)

Choroidal Thickness in Different Types of Inherited Retinal Dystrophies

Journal of Ophthalmic & Vision Research, 2020
Purpose: To compare the choroidal thickness among eyes with retinitis pigmentosa (RP), Stargardt disease, Usher syndrome, cone-rod dystrophy, and healthy eyes of sex- and age-matched individuals. Methods: In this comparative study, 503 eyes with RP
Hamideh Sabbaghi, Hamid Ahmadieh, Jalil Jalili, Nazanin Behnaz, Maryam Fakhri, Fatemeh Suri, Bahareh Kheiri, Mojtaba Rajabpour, Morteza Entezari, Narsis Daftarian   +9 more
doaj   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options [PDF]

, 2016
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4 Significant advances have been made over the last 10 years in our understanding of both the
Fujinami, K, Michaelides, M, Strauss, RW, Tanna, P   +3 more
core   +1 more source

Translation of CRISPR Genome Surgery to the Bedside for Retinal Diseases

Frontiers in Cell and Developmental Biology, 2018
In recent years, there has been accelerated growth of clustered regularly interspaced short palindromic repeats (CRISPR) genome surgery techniques. Genome surgery holds promise for diseases for which a cure currently does not exist.
Christine L. Xu, Christine L. Xu, Galaxy Y. Cho, Galaxy Y. Cho, Galaxy Y. Cho, Jesse D. Sengillo, Jesse D. Sengillo, Jesse D. Sengillo, Karen S. Park, Karen S. Park, Vinit B. Mahajan, Vinit B. Mahajan, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang, Stephen H. Tsang   +15 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Inherited retinal dystrophies associated with ABCA4 mutation

Modern technologies in ophtalmology, 2023
АBСА4-associated inheredited retinal dystrophies represent a heterogeneous group of more often autosomal recessive hereditary diseases. АBСА4 mutation in 80 % of cases is the cause of Stargardt’s disease, fundus albipunctatus, but there are other phenotypes similar to retinitis pigmentosa, cone-rod retinal dystrophies.
A.D. Chuprov, E.A. Pidodniy
openaire   +1 more source

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies

Frontiers in Neuroscience, 2020
Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are inherited degenerative retinal dystrophies with vision loss that ultimately lead to blindness.
Nanda Boon, Jan Wijnholds, Jan Wijnholds, Lucie P. Pellissier   +3 more
doaj   +1 more source

Low‐Cost and Detunable Wireless Resonator Glasses for Enhanced Eye MRI With Concurrent High‐Quality Whole‐Brain MRI

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT PurposeTo develop a wearable wireless resonator glasses design that enhances eye MRI signal‐to‐noise ratio (SNR) without compromising whole‐brain image quality at 7 T. MethodsThe device integrates two detunable LC loop resonators into a lightweight, 3D‐printed frame positioned near the eyes.
Ming Lu, Xiaoyue Yang, Jason E. Moore, Pingping Li, Adam W. Anderson, John C. Gore, Seth A. Smith, Xinqiang Yan   +7 more
wiley   +1 more source

Adaptive optics imaging of inherited retinal diseases. [PDF]

, 2017
Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases.
Carroll, J, Dubra, A, Georgiou, M, Kalitzeos, A, Michaelides, M, Patterson, EJ   +5 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source