Results 101 to 110 of about 9,987 (182)

A novel OPA1 mutation in a family with Autosomal Dominant Optic Atrophy

, 2005
Heading: To identify pathogenic mutations in patients with ADOA, previously excluded for LHON mutations. Background: Autosomal dominant optic atrophy (ADOA), Kjer type, is an inherited primary optic neuropathy that leads to reduced visual acuity.
FEDERICO, ANTONIO, CARDAIOLI, ELENA, CAPOROSSI, ALDO, DA POZZO, PAOLA, GALLUS, GIAN NICOLA, FRANCESCHINI, ROSSELLA, DOTTI, MARIA, MALFATTI, EDOARDO   +7 more
core  

Retinal Ganglion Cell and Nerve Fiber Loss in Autosomal Dominant Optic Atrophy:Correlations with Visual Functions

, 2018
To investigate the peripapillary retinal nerve fiber layer (RNFL) thickness and macular retinal ganglion cell layer (RGC) thickness of the autosomal dominant optic atrophy (ADOA) patients and correlate them with visual acuity and visual field ...
Jin Choi; Jae Yong Park; Won Hyuk Oh
core  

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

Proc Natl Acad Sci U S A
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   +1 more source

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.

, 2015
Leber hereditary optic neuropathy and autosomal dominant optic atrophy are the two most common inherited optic neuropathies. The latter has been associated with mutations in the OPA1 and OPA3 genes.
Davies, Jennifer
core  

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
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   +1 more source

Autosomal dominant optic atrophy and peripheral neuropathy [PDF]

, 2020
openaire   +1 more source

Pattern of Retinal Ganglion Cell Loss in Dominant Optic Atrophy due to OPA1 Mutations

, 2011
Autosomal dominant optic atrophy (DOA) is the most common inherited optic nerve disorder and about 60% of patients harbor pathogenic mutations in the OPA1 gene. Although the pathological hallmark of DOA is the preferential loss of retinal ganglion cells (
Patrick Yu-Wai-Man; Alaa Atawan; Maura Bailie; Patrick Francis Chinnery; Philip Guy Griffiths
core  

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]

Clin Case Rep
Sultana N, Mamun AA, Begum A.
europepmc   +1 more source

Expanding the phenotype of Wolfram syndrome: adult presentation with a novel <i>WFS1</i> variant. [PDF]

JCEM Case Rep
Mehrotra P, Vengadakrishnan, Dubey N.
europepmc   +1 more source