Results 61 to 70 of about 417,668 (180)
Retinal Oxygenation in Inherited Diseases of the Retina
, 2021 (1) Background: The aim of our study was to investigate the relationship between retinal metabolic alterations (retinal vessel oximetry, RO) and structural findings (retinal vessel diameter, central retinal thickness and retinal nerve fiber layer ...
Cengiz Türksever +3 more
core +1 more source
Case Reports in OphthalmologyIntroduction: C19ORF44 has recently been identified as a gene associated with autosomal recessive inherited retinal disease (IRD). The function of the gene remains poorly understood, and a previously reported case with identical primary ...
Lucas Yan Bin Ng +5 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
Does GDNF exert its neuroprotective effects on photoreceptors in the rd1 retina through the glial glutamate transporter GLAST? [PDF]
, 2005 PURPOSE: We previously demonstrated that exogenous glial cell line-derived neurotrophic factor (GDNF) induces histological and functional protection of photoreceptors in the retinal degeneration (rd1) mouse model.
Neveux, N +4 more
core
iMeta, EarlyView.The Human Biomarker Navigator integrates the disease continuum, biomarker dynamics, cross‐organ biomarker networks, biomarker classification, and technology‐driven paradigms. It maps how biomarkers link multi‐system physiology and pathology across the nervous, respiratory, endocrine, circulatory, immune, digestive, urinary, reproductive, and ...
Meng‐Yao Li +29 more
wiley +1 more source
Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report
Case Reports in OphthalmologyIntroduction: Alpha-mannosidosis is a rare inherited lysosomal storage disorder characterized by immune deficiency, intellectual disability, hearing loss, and skeletal and facial dysmorphism.
Faeeqah Almhmoudi +4 more
doaj +1 more source
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
CHRISMED Journal of Health and Research, 2016 Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism ...
Yatendra Singh +4 more
doaj +1 more source
Long-term visual and microperimetry outcomes following autologous retinal pigment epithelium choroid graft for neovascular age-related macular degeneration [PDF]
, 2009 To describe the 2- to 4-year visual and microperimetry outcomes of autologous retinal pigment epithelium (RPE)-choroid graft in patients with neovascular age-related macular degeneration (AMD).In this retrospective cohort study, 12 patients with ...
Coffey, PJ +9 more
core +1 more source
Stargadt’s disease in two Nigerian siblings
International Medical Case Reports Journal, 2013 Tunji S Oluleye, Akinsola Sunday Aina, Tarela Frederick Sarimiye, Segun Isaac Olaniyan Retinal and Vitreous Unit, University College Hospital, Ibadan, Nigeria Abstract: Stargardt’s disease is an inherited macular dystrophy that is transmitted in an
Oluleye TS +3 more
doaj
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source