Results 61 to 70 of about 29,682 (236)
American Journal of Ophthalmology Case ReportsPurpose: To report a patient with cone dystrophy and a striking tapetal reflex caused by a novel variant in TTLL5, which was initially missed by a local retinal specialist due to inaccurate phenotyping of macular dystrophy.
Yi Zhai, Rita Kodida, Brian G. Ballios
doaj +1 more source
Indian Journal of Ophthalmology, 2018 Posterior polar annual choroidal dystrophy is a rare disease which affects the retina and choroid in an annular pattern. Our patient was referred to us a case of atypical retinitis pigmentosa.
Raja Narayanan
doaj +1 more source
Animal Models and Experimental Medicine, EarlyView.Age‐related macular degeneration (AMD) involves lipid dysregulation and complement overactivation. Here, we characterize a double‐knockout ApoE−/−/Cfh−/− mouse as a model of early–intermediate retinal degeneration. These mice exhibit retinal pigment epithelium thinning, Bruch's membrane thickening, lipid accumulation, enhanced C5b‐9 deposition ...
Sergio Recalde +9 more
wiley +1 more source
Cellular role of the putative Ca2+-dependent Cl- channel bestrophin
, 2008 Ca2+-activated Cl- channels (CaCCs) participate in a variety of important physiological processes such as transepithelial transport, olfactory and taste transduction, neuronal and cardiac excitability, fototransduction and fertility.
Barro Soria, René
core +1 more source
Diagnostics, 2022 Central serous chorioretinopathy (CSCR) is a retinal disease characterized by a heterogeneous clinical phenotype, depending on the influence of different factors in its pathogenesis, including the presence of subretinal fluid (SRF), trophism of the ...
Fabrizio Giansanti +8 more
doaj +1 more source
Status and future of recombinant adeno‐associated virus vector manufacturing
Biotechnology Progress, EarlyView.Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley +1 more source
Fhod3 in zebrafish supports myofibril stability during growth of embryonic skeletal muscle
Developmental Dynamics, EarlyView.Abstract Background Actin filament organization in cardiomyocytes critically depends on the formin Fhod3, but a role for Fhod3 in skeletal muscle development has not yet been described. Results We demonstrate here that in zebrafish mutated for one of two fhod3 paralog genes, fhod3a, skeletal muscle of the trunk appears normal through 2 days post ...
Aubrie Russell +3 more
wiley +1 more source
A case of cone dystrophy associated with choroidal neovascularization
, 2018 PURPOSE: To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD). METHODS: Case report.RESULTS: A 20-year-old woman presented with diminished vision in her right eye.
Odabaşı, Mahmut +13 more
core +1 more source
Best vitelliform macular dystrophy in a large Brazilian family
International Journal of Retina and Vitreous, 2019 Background To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy. Methods A retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography,
Carolina Pádua Rocha de Souza +3 more
doaj +1 more source
Frontiers in Ophthalmology, 2023 Adult-onset foveomacular dystrophy (AOFVD) is a retinal pattern dystrophy that may affect up to 1 in 7,400 individuals. There is much that is unknown regarding this disease’s epidemiology, risk factors for development, and rate of progression through its
Grace E. Nipp +5 more
doaj +1 more source