Results 131 to 140 of about 29,682 (236)

Evidence for glutamate-mediated excitotoxic mechanisms during photoreceptor degeneration in the rd1 mouse retina

, 2005
PURPOSE: Kinetic studies of photoreceptor cell death in the retinal degeneration (rd1) mouse model suggest that photoreceptor degeneration could result from cumulative damage.
Neveux, N, Forster, V, Picaud, S, Leveillard, T, Sahel, JA, Delyfer, MN   +5 more
core  

Reticular Dystrophy of the Retinal Pigment Epithelium

, 2008
A laser flare-cell meter was used to examine blood-aqueous barrier function in a 57-year-old male patient who had typical reticular dystrophy of the retinal pigment epithelium with a bilateral hyperpigmented reticular pattern at the posterior pole in ...
陳慕師;張慶忠;蔡紫薰;方怡謨;侯平康, CHEN, MUH-SHY;CHANG, CHING-CHUNG;TSAI, TZU-HSUN;FAN, I-MORE;HOU, PING-KANG   +1 more
core  

Antisense oligonucleotide allele-specific targeting of EFEMP1 in a patient-derived model of Doyne honeycomb retinal dystrophy. [PDF]

Mol Ther Nucleic Acids
Rezek FO, Sanchez-Pintado B, Eden ER, Corral-Serrano JC, Aychoua N, Webster AR, de Guimarães TAC, Carr AF, Michaelides M, Cheetham ME, van der Spuy J.   +10 more
europepmc   +2 more sources

Does GDNF exert its neuroprotective effects on photoreceptors in the rd1 retina through the glial glutamate transporter GLAST?

, 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, Leveillard, T, Sahel, JA, Simonutti, M, Delyfer, MN   +4 more
core  

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, Aina AS, Sarimiye TF, Olaniyan SI   +3 more
doaj  

Progressive retinal dystrophy in two sisters with glutathione synthetase (GS) deficiency

, 2007
We report the ophthalmological findings of two sisters with severe glutathione synthetase deficiency, an autosomal recessive inborn error of metabolism resulting in very low intracellular levels of the free-radical scavenger glutathione.
Burstedt, Marie,, Ristoff, E,, Wachtmeister, Lillemor,, Larsson, A   +3 more
core  

Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]

Oman Med J
Al Shamsi B, Ganesh A, Harikrishna B, Al Zuhaibi S, Markovic I, Mansy A, Al Thihli K, Ahmad F, Mameesh M, Al Murshedi F.   +9 more
europepmc   +1 more source

Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report. [PDF]

Case Rep Ophthalmol
Almhmoudi F, Bamusa A, Alrashid A, Khalid A Alomari B, Alselami GI.   +4 more
europepmc   +1 more source

Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients. [PDF]

NPJ Genom Med
Koyanagi Y, Murakami Y, Kominami T, Fukushima M, Goto K, Yokota S, Mizobuchi K, Mawatari G, Torii K, Inoue Y, Ota J, Okuda D, Fujiwara K, Yamaga H, Hisai T, Endo M, Iijima H, Kaida T, Miyata K, Nakazaki S, Hayashi T, Hirami Y, Akiyama M, Terao C, Momozawa Y, Sonoda KH, Nishiguchi KM, Ikeda Y.   +27 more
europepmc   +1 more source

The Role of Artificial Intelligence in Imaging-Based Diagnosis of Retinal Dystrophy and Evaluation of Gene Therapy Efficacy. [PDF]

J Pers Med
Chuchmacz W, Bobowska B, Forma A, Dzierżyński E, Puźniak D, Teresińska B, Baj J, Dolar-Szczasny J.   +7 more
europepmc   +1 more source