Results 11 to 20 of about 91,474 (255)

Medical management of hereditary optic neuropathies. [PDF]

, 2014
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero, Carbonelli, Michele, Carelli, Valerio, La Morgia, Chiara, Sadun, Alfredo Arrigo   +4 more
core   +1 more source

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

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

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

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

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

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

Spontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy

Case Reports in Ophthalmological Medicine, 2016
Purpose. To present a case of a patient with pattern dystrophy (PD) associated choroidal neovascularization (CNV) that resolved spontaneously without treatment. Methods.
Anastasios Anastasakis, Flamur Goleni, Gerasimos Livir-Rallatos, Charalampos Livir-Rallatos, Panagiotis Zafirakis, Gerald Allen Fishman   +5 more
doaj   +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