Results 51 to 60 of about 25,332 (224)
Leber’s Congenital Amaurosis and its Complications – A Very Rare Presentation
Delhi Journal of OphthalmologyLeber’s congenital amaurosis is one of the most severe forms of retinal dystrophies responsible for congenital blindness. It accounts for 10%–18% of congenital blindness cases.
Sujit Das +3 more
doaj +1 more source
Amaurosis fugax: Case report [PDF]
ABC: časopis urgentne medicine, 2016 Acute loss of vision is in itself a sign of uzbunu. Amaurosis fugax (transient loss of vision) is a sudden painless loss of vision, usually one eye for a period of 5-15 minuta. Vid then gradually returns to normalu.
Repac Vinka +2 more
doaj
CrxRdy cat: A large animal model for CRX-associated Leber congenital amaurosis [PDF]
, 2016 PURPOSE: Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously.
Chen, Shiming +4 more
core +3 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Advances in the genetics of refractive errors: Contributions from the CREAM consortium
Acta Ophthalmologica, Volume 104, Issue 3, Page e222-e231, May 2026.Abstract The Consortium for Refractive Error and Myopia (CREAM) was established in 2011, bringing together an international team of researchers studying more than 30 cohorts. Since its establishment, CREAM has played a pivotal role in research investigating the genetics of myopia and other refractive errors, serving as a key driver of progress in the ...
Sze Wai Rosa Li +11 more
wiley +1 more source
Amaurosis fugax associated with congenital vascular defect
International Medical Case Reports Journal, 2016 John W Giltner,1 Edward R Thomas,2 William K Rundell3 1Boonshoft School of Medicine, Wright State University, Dayton, OH, USA; 2Ohio Eyecare Institute, Premier Health Specialists, Dayton, OH, USA; 3Department of Surgery, Miami Valley Hospital, Dayton, OH,
Giltner JW, Thomas ER, Rundell WK
doaj
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]
, 2015 The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M +4 more
core
Concise Review: The Potential Use of Intestinal Stem Cells to Treat Patients With Intestinal Failure. [PDF]
, 2016 : Intestinal failure is a rare life-threatening condition that results in the inability to maintain normal growth and hydration status by enteral nutrition alone.
Dunn, James CY +3 more
core +1 more source
Opening closed inward rectifier potassium channel doors
British Journal of Pharmacology, Volume 183, Issue 10, Page 2197-2218, May 2026.Inwardly rectifying potassium (KIR) channels are essential regulators of membrane potential in excitable and non‐excitable tissues. Although KIR channels exhibit a biophysical preference for potassium influx due to voltage‐dependent block of outward current by polyamines and Mg2+, under physiological conditions, they predominantly mediate K+ efflux ...
Anna Stary‐Weinzinger +3 more
wiley +1 more source
Case Reports in Vascular Medicine, 2012 Purpose. A transient painless monocular visual loss due to a decrease in retinal circulation—also known as “amaurosis fugax”—often precedes acute territorial cerebral ischaemia.
L. Tomaschütz +4 more
doaj +1 more source