Results 21 to 30 of about 310,806 (291)

Melanopsin-expressing retinal ganglion cells are resistant to cell injury, but not always [PDF]

, 2017
Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive RGCs deputed to non-image forming functions of the eye such as synchronization of circadian rhythms to light-dark cycle.
Carelli, Valerio, Georg, Birgitte, Ghelli, Anna, Giordano, Carla, Hannibal, Jens, La Morgia, Chiara, Ross Cisneros, Fred N., Sadun, Alfredo A.   +7 more
core   +1 more source

Quality of life in patients with allergic and immunologic skin diseases: in the eye of the beholder

Clinical and Molecular Allergy, 2021
Allergic and immunologic skin diseases negatively impact the quality of life (QoL) of affected patients with detrimental consequences. Nonetheless, in everyday clinical practice the evaluation of QoL is often overlooked.
E. Di Agosta, L. Salvati, M. Corazza, I. Baiardini, F. Ambrogio, L. Angileri, E. Antonelli, Federica Belluzzo, D. Bonamonte, L. Bonzano, Raffaele Brancaccio, P. Custurone, A. De Marco, Aikaterini Detoraki, Adriana di Guida, E. Di Leo, M. Fantò, F. Fassio, S. Ferrucci, C. Foti, R. Gallo, A. Gatta, F. Guarneri, L. Guidolin, K. Hansel, D. Lamacchia, C. Lombardo, P. Minciullo, M. Napolitano, A. Pannofino, Andrea Paravisi, R. Parente, Maria Passante, C. Patruno, D. Peroni, C. Quecchia, N. Schettini, G. Spadaro, L. Stingeni, D. Tarrini, M. Tramontana, E. Nettis, O. Rossi   +42 more
semanticscholar   +1 more source

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases

Translational Vision Science & Technology, 2019
Purpose We evaluate the power of a next-generation sequencing-based ophthalmic targeted sequencing panel (NGS-based OTSP) as a genetics-testing tool for patients suspected of a wide range of hereditary eye diseases. Methods NGS-based OTSP encompasses 126
Panfeng Wang, Shi-qiang Li, Wenmin Sun, Xueshan Xiao, Xiao-yun Jia, Mengchu Liu, Lieqiang Xu, Yuxi Long, Qingjiong Zhang   +8 more
semanticscholar   +1 more source

Profound vision loss impairs psychological well-being in young and middle-aged individuals. [PDF]

, 2017
PurposeThe aim of this study was to evaluate the effects of profound vision loss on psychological well-being in adolescents, young adults, and middle-aged adults with regard to mood, interpersonal interactions, and career-related goals.
Baron, David, Frousiakis, Starleen E, Gale, Jesse, Garcia, Giancarlo A, Hwang, Tiffany J, Karanjia, Rustum, Khoshnevis, Matin, Poincenot, Lissa, Sadun, Alfredo A   +8 more
core   +2 more sources

Clinical and imaging clues to the diagnosis and follow‐up of ptosis and ophthalmoparesis

Journal of Cachexia, Sarcopenia and Muscle, 2022
Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the ...
Kevin R. Keene, Hermien E. Kan, Stijn van derMeeren, Berit M. Verbist, Martijn R. Tannemaat, Jan‐Willem M. Beenakker, Jan J.G.M. Verschuuren   +6 more
doaj   +1 more source

Ocular abnormalities in Polish Hunting Dogs

PLoS ONE, 2021
This study aimed to describe and determine the prevalence of ocular abnormalities in Polish Hunting Dogs. The study was conducted with 193 Polish Hunting Dogs: 101 female and 92 male animals, aged between 3 months and 12 years.
Ireneusz Balicki, Małgorzata Goleman, Agnieszka Balicka   +2 more
doaj   +2 more sources

Effectiveness of whole-exome sequencing for the identification of causal mutations in patients with suspected inherited ocular diseases

Revista de Investigación Clínica, 2022
Background: Genetic eye disorders, affecting around one in 1000 people, encompass a diverse group of diseases causing severe visual deficiency. The recent adoption of next-generation sequencing techniques, including whole-exome sequencing (WES), in ...
Vianey Ordoñez-Labastida, Luis Montes-Almanza, Froylan García-Martínez, Juan C. Zenteno   +3 more
doaj   +1 more source

Long-Term Results after DMEK (Descemet’s Membrane Endothelial Keratoplasty) [PDF]

, 2020
Ziel der Arbeit: Evaluation der langfristigen Ergebnisse sowie der Komplikationsrate nach Descemet’s Membran Endothelialen Keratoplastik (DMEK) Methoden: Eine cross-sectional, Fall-Serien Studie.
Wardeh, Rima
core   +1 more source

GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice

Педиатрическая фармакология, 2021
Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova   +5 more
doaj   +1 more source

Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]

, 2013
The final publication is available at Springer via doi: 10.​1007/​s00415-013-7136-
A. M. Bronstein, C Morgia, C. Everett, E Storey, G Deuschl, I. Peppas, K. Schmierer, KK Johansen, KL Howard, LI Lopez, M Samuel, M. M. Papachatzaki, N. Ali, P Amati-Bonneau, Q. Arshad, RK Naviaux, S Stricker, S. Cader   +17 more
core   +1 more source