Results 21 to 30 of about 1,459,190 (233)

Clinical and Genetic Findings in an Autosomal Dominant Optic Atrophy-Compatible Phenotype Harboring an OPA1 Variant: A Case Report. [PDF]

Cureus
We report a case of an 18-year-old Hispanic male patient with clinical features consistent with autosomal dominant optic atrophy (ADOA), including bilateral optic disc pallor, childhood color deficits, and visual field loss. The patient reported one year
Murati Calderon RA, Landestoy G, Izquierdo N.   +2 more
europepmc   +2 more sources

Rhesus macaques with an <i>OPA1</i> mutation demonstrate features of autosomal dominant optic atrophy. [PDF]

Proc Natl Acad Sci U S A
Significance Optic neuropathies due to heritable diseases are a common cause of blindness in humans, but limited therapies currently exist for the vision loss that occurs from them.
Jaggers TN, Ripolles-Garcia A, Moshiri A, Story BD, Wang J, Chen R, Moore LG, Teixeira LBC, Shim J, Raposo AC, Casanova MI, Le SM, Park S, Young LJ, Kim S, Roszak KP, Ureno V, Karpinen PM, Echeverria N, Ardon M, Leonard BC, Knipe M, Bliss-Moreau E, Fortune B, Stout JT, Rogers J, Marsh-Armstrong N, Thomasy SM.   +27 more
europepmc   +2 more sources

Disrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy. [PDF]

Sci Adv
Autosomal dominant optic atrophy (ADOA) is a hereditary optic neuropathy caused by OPA1 variants, leading to retinal ganglion cell (RGC) degeneration and vision loss. The mechanisms behind RGC vulnerability to mitochondrial dysfunction remain unclear. We
Kang EY, Tseng YJ, Peng WH, Hung HC, Lin PH, Montales KP, Sherman E, Peregrin J, Wang EH, Kang C, Teng YC, Huang CY, Tsai CL, Chang IY, Chen J, Tezel G, He Y, Li TD, Stiles L, Shirihai O, Tsang SH, Lai CC, Tsai CN, Lin CS, Wang NK.   +24 more
europepmc   +2 more sources

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class. [PDF]

Invest Ophthalmol Vis Sci
Purpose Inner retinal layer thinning in autosomal dominant optic atrophy (ADOA) can affect visual acuity (VA), but impact on perimetric parameters and disease-related changes with increasing age are undefined. Methods One hundred eight patients with ADOA
Schrittwieser J, Reitner A, Kircher K, Bertich M, Stapf C, Lilja SV, Paquay A, Reiter GS, Bittner RE, Schmidt WM, Pemp B.   +10 more
europepmc   +2 more sources

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [PDF]

Brain Commun
Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (ADOA) are the two most prevailing primary mitochondrial optic neuropathies. Both diseases preferentially affect the smallest retinal ganglion cells (GCs) of the papillomacular
Rufa A, Plantone D, Bargagli A, Righi D, Bacci T, Serchi V, Primiano G, Gallus GN, Lopergolo D, Pretegiani E, Rosini F, Locci S, Tosi GM, De Stefano N.   +13 more
europepmc   +2 more sources

Antisense Oligonucleotide STK-002 Increases OPA1 in Retina and Improves Mitochondrial Function in Autosomal Dominant Optic Atrophy Cells. [PDF]

Nucleic Acid Ther
Autosomal dominant optic atrophy (ADOA) is an inherited optic neuropathy most frequently associated with OPA1 mutations. Most variants result in haploinsufficiency, and patient cells express roughly half of the normal levels of OPA1 protein.
Venkatesh A, McKenty T, Ali S, Sonntag D, Ravipaty S, Cui Y, Slate D, Lin Q, Christiansen A, Jacobson S, Kach J, Lim KH, Srinivasan V, Zinshteyn B, Aznarez I, Huryn LA, Li Z, Hufnagel RB, Liau G, Anderson K, Hoger J.   +20 more
europepmc   +2 more sources

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore. [PDF]

Eye (Lond), 2017
PurposeAutosomal-dominant optic atrophy (ADOA), often associated with mutations in the OPA1 gene (chromosome 3q28-q29) is rarely reported in Asia. Our aim was to identify and describe this condition in an Asian population in Singapore.Patients and methodsPreliminary cross-sectional study at the Singapore National Eye Centre, including patients with ...
Loo JL, Singhal S, Rukmini AV, Tow S, Amati-Bonneau P, Procaccio V, Bonneau D, Gooley JJ, Reynier P, Ferré M, Milea D.   +10 more
europepmc   +4 more sources

Comparison of Lamina Cribrosa Morphology in Normal Tension Glaucoma and Autosomal-Dominant Optic Atrophy. [PDF]

Invest Ophthalmol Vis Sci, 2020
Purpose To compare lamina cribrosa (LC) morphology in patients with normal tension glaucoma (NTG) and autosomal-dominant optic atrophy (ADOA). Methods This cross-sectional study matched 24 patients diagnosed with ADOA (24 eyes) by age and retinal nerve ...
Kim GN, Kim JA, Kim MJ, Lee EJ, Hwang JM, Kim TW.   +5 more
europepmc   +2 more sources

Generation of an induced pluripotent stem cell line BIOi002-A from a patient with autosomal dominant optic atrophy

Stem Cell Research, 2021
Mutations of the OPA1 gene are responsible for over 70% of autosomal dominant optic atrophy patients. Peripheral blood mononuclear cells (PBMCs) were isolated from a 27–year-old patient with heterozygous c.2708_2711delTTAG mutation in the OPA1 gene ...
Xiao-Hui Zhang, Yue Xie, Ke Xu, Yang Li
doaj   +2 more sources

The reduction of temporal optic nerve head microcirculation in autosomal dominant optic atrophy [PDF]

Acta Ophthalmologica, 2016
AbstractPurposeTo evaluate the optic nerve head (ONH) microcirculation in autosomal dominant optic atrophy (ADOA) patients.MethodsThis study comprised 22 eyes of 12 ADOA patients, diagnosed according to clinical findings including family history and the presence of mutations in the OPA1 gene.
Koji M Nishiguchi, Noriko Himori, Tōru Nakazawa   +2 more
exaly   +3 more sources