Results 51 to 60 of about 1,459,190 (233)

Medical management of hereditary optic neuropathies

Frontiers in Neurology, 2014
Hereditary optic neuropathies are diseases of 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).
Chiara eLa Morgia, Chiara eLa Morgia, Michele eCarbonelli, Piero eBarboni, Piero eBarboni, Alfredo Arrigo Sadun, Valerio eCarelli, Valerio eCarelli   +7 more
doaj   +1 more source

Omega-3 fatty acids promote neuroprotection, decreased apoptosis and reduced glial cell activation in the retina of a mouse model of OPA1-related autosomal dominant optic atrophy.

Experimental Eye Research, 2021
The purpose of this study was to evaluate the neuroprotective effects of omega-3 polyunsaturated fatty acid (ω3-PUFA) supplementation in a mouse model of OPA1-associated autosomal dominant optic atrophy (ADOA).
M. Kalogerou, Sotiris Ioannou, P. Kolovos, E. Prokopiou, L. Potamiti, K. Kyriacou, M. Panagiotidis, M. Ioannou, Eleni Fella, E. P. Worth, T. Georgiou   +10 more
semanticscholar   +1 more source

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy [PDF]

British Journal of Ophthalmology, 2003
Patients with autosomal dominant optic atrophy (ADOA) are genetically heterogeneous, but all have disc pallor. A degree of cupping in ADOA can make the distinction from normal tension glaucoma (NTG) clinically difficult. This study aimed to clarify the features of the optic nerve of patients with ADOA at the OPA1 locus.29 patients (58 eyes), from 12 ...
Votruba, Marcela, Thiselton, D., Bhattacharya, S. S.   +2 more
openaire   +3 more sources

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source

Genetic heterogeneity in autosomal dominant optic atrophy [PDF]

, 2002
Purpose: Autosomal dominant optic atrophy is a hereditary optic neuropathy characterized by progressive visual loss in childhood, color vision anomalies, visual field defects and temporal pallor of the optic disc. This disease has been mapped to a 1.4 cM
Maumenee, Irene Hussels, Sallum, Juliana Maria Ferraz [UNIFESP], Farah, Michel Eid, Farah, Michel Eid [UNIFESP], Sallum, Juliana Maria Ferraz   +4 more
core   +1 more source

The natural history of OPA1-related autosomal dominant optic atrophy [PDF]

British Journal of Ophthalmology, 2008
Autosomal dominant optic atrophy (ADOA) is a genetically heterogenous disease. However, a large proportion of this disease is accounted for by mutations in OPA1. The aim of this longitudinal study was to investigate disease progression in Australian ADOA patients with confirmed OPA1 mutations.Probands with characteristic clinical findings of ADOA were ...
A C, Cohn, C, Toomes, A W, Hewitt, L S, Kearns, C F, Inglehearn, J E, Craig, D A, Mackey   +6 more
openaire   +2 more sources

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts [PDF]

, 2003
Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum lod score (7.
Basak, A, Hilal, L., Cherif Chefchaouni, M., Slingsby, Christine, Hajaji, Y, Basak, Ajit K., Arbogast, L., Abitbol, Marc, M, Nandrot, E., Cherif-Chefchaouni, M, Benazzouz, B, Boutayeb, S, Boutayeb, S., Berraho, A., Hilal, Latifa, Abitbol, M., Arbogast, Laurence, Hajaji, Y., Gribouval, O., Benazzouz, B., Abitbol, Marc,, Nandrot, Emeline, Gribouval, Olivier   +22 more
core   +1 more source

Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. [PDF]

PLoS ONE, 2011
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. Around 60% of ADOA cases are linked to mutations in the OPA1 gene. OPA1 is
Nicole J Van Bergen, Jonathan G Crowston, Lisa S Kearns, Sandra E Staffieri, Alex W Hewitt, Amy C Cohn, David A Mackey, Ian A Trounce   +7 more
doaj   +1 more source

OPA1 increases the risk of normal but not high tension glaucoma

, 2010
Background Primary open angle glaucoma is a progressive optic neuropathy characterised by the selective loss of retinal ganglion cells, pathological optic disc cupping and visual field defects.
Griffiths, P. G., Birch, M. K., Andrews, R. M., Chinnery, P. F., Hudson, G., Yu-Wai-Man, P., Stewart, J .D.   +6 more
core   +1 more source

Autosomal dominant polycystic kidney disease in hemodialysis patients in southern Brazil [PDF]

, 2014
INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease ...
Torres, Paulo Roberto Aranha, Tsuneto, Luiza Tamie, Silva, Letícia Nicoletti, Carvalho, Maria Dalva de Barros, Sandra Marisa Pelloso, Luiza Tamie Tsuneto, Obregon, José Miguel Viscarra, Everton Fernando Alves, Guido Luis Gomes Otto, Maria Dalva de Barros Carvalho, Pelloso, Sandra Marisa, Silva, Adaelson Alves, Paulo Roberto Aranha Torres, Adaelson Alves Silva, Jose Miguel Viscarra Obregon, Leticia Nicoletti Silva, Alves, Everton Fernando, Otto, Guido Luis Gomes   +17 more
core   +1 more source