Results 121 to 130 of about 10,317 (215)

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. [PDF]

, 2016
PurposeWe determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene.MethodsA total of 62 individuals (19 families)
Birch, David G, Bowne, Sara J, Conneely, Karen N, Daiger, Stephen P, Hughbanks-Wheaton, Dianna K, Shankar, Suma P, Stone, Edwin M, Sullivan, Lori S   +7 more
core  

Multimodal Assessment of Structure and Function in Inherited Retinal Degenerations [PDF]

, 2019
Inherited retinal degenerations (IRDs) affect approximately 1:4,000 people worldwide and are currently the leading cause of vision loss of people between the ages of 15-45. The mechanisms of degeneration in many IRDs remain unclear.
Foote, Katharina
core  

Treating Stargardt Disease

, 2023
Radboud University, 19 januari ...
openaire   +1 more source

Fundus flavimaculatus. Case presentation

Revista Habanera de Ciencias Médicas, 2019
Introduction: Stargardt´s Disease or fundus flavimaculatus is the most frequent juvenile macular dystrophy that is responsible for 7 % of macular dystrophies. They can be difficult to address because of several reasons.
Daime Álvarez López, Ayetza Baglán Pichardo, Odalys Herreras Cardoso   +2 more
doaj  

Nutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease. [PDF]

Curr Opin Ophthalmol
Barthelemy N, Lee W, Gregori NZ, Lam BL, Sengillo JD.   +4 more
europepmc   +1 more source

Genetic Correlates of Phenotypic Variability in c.5882G>A p.(Gly1961Glu)-Associated Stargardt Disease. [PDF]

Invest Ophthalmol Vis Sci
Pas JAAH, Künzel SH, Ansari G, Pfau K, Chang P, Herrmann P, Holz FG, Hoyng CB, Pfau M.   +8 more
europepmc   +1 more source

Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease. [PDF]

Invest Ophthalmol Vis Sci
Ibukun F, Strauss RW, Rustam Z, Khan MJ, Cideciyan AV, Birch DG, Ho A, Sunness JS, Audo IS, Michaelides M, Zrenner E, Traboulsi EI, Bernstein P, Sadda S, Ip MS, West S, Kong X.   +16 more
europepmc   +1 more source

LLMs and Stargardt’s Disease

Background/Objective: Stargardt's disease is the most common form of inherited juvenile macular degeneration affecting 1 in 8,000-10,000 individuals worldwide, with a slight predominance towards females. As large language models (LLMs) increasingly serve as sources of health information, understanding their effectiveness in providing accurate ...
Gloria Wu, Lochan Bojja, Aadjot Sidhu, Obaid Khan, Hrishi Paliath-Pathiyal, Bojia Liu, Margaret Wang, Ivan Chim   +7 more
openaire   +1 more source

A self-supervised learning method for detection of retinitis pigmentosa and Stargardt disease. [PDF]

Sci Rep
Karimi A, Ahmadieh H, Sadeghi Tabrizi M, Daftarian N, Farshian Abbasi A, Fekri S, Ghattan Kashani H, Baghban Jaldian H, Yazdanpanah M, Shariat Panahi M, Sabbaghi H.   +10 more
europepmc   +1 more source