Results 71 to 80 of about 9,987 (182)

Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY

, 1998
Autosomal dominant optic atrophy (OPA1) maps to Chromosome (Chr) 3q28, and the disease interval has been refined to within 1.4 cM, flanked by the markers D3S3669 and D3S3562.
Votruba, Marcela, Bhattacharya, S. S., Moore, A. T., Payne, A.   +3 more
core   +2 more sources

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

BMC Medical Genomics
Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion ...
Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang   +8 more
doaj   +1 more source

Technological advances in the diagnosis and management of inherited optic neuropathies

Frontiers in Neurology
Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic ...
John O. T. Britton, John O. T. Britton, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Benson S. Chen, Benson S. Chen, Benson S. Chen   +8 more
doaj   +1 more source

Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy.

PLoS ONE, 2013
Autosomal dominant optic atrophy (ADOA) is a slowly progressive optic neuropathy that has been associated with mutations of the OPA1 gene. In patients, the disease primarily affects the retinal ganglion cells (RGCs) and causes optic nerve atrophy and ...
Georgia Perganta, Alun R Barnard, Christiana Katti, Athanasios Vachtsevanos, Ron H Douglas, Robert E MacLaren, Marcela Votruba, Sumathi Sekaran   +7 more
doaj   +1 more source

Optic Nerve Hypoplasia in Autosomal Dominant Optic Atrophy

, 2009
Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy, due to retinal ganglion cells degeneration.
Michelle Ariss; Dan Milea; Marianne Wegener; Michael Larsen; Elias Traboulsi
core  

Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3L2 gene [PDF]

, 2017
Background: Autosomal Dominant Optic Atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability.
DALLE CARBONARE, MAURIZIO, Veronica Maritan, PIERMAROCCHI, STEFANO, Colavito, Davide, Elda Del Giudice, Stefania Miotto, Sofia Farina, Stefano Piermarocchi, Farina, Sofia, Maritan, Veronica, del Giudice, Elda, Davide Colavito, SUPPIEJ, AGNESE, Leon, Alberta, MIOTTO, STEFANIA, Monica Mazzarolo, Mazzarolo, Monica, Agnese Suppiej, Maurizio Dalle Carbonare, Alberta Leon   +19 more
core   +1 more source

Autosomal Dominant Optic Atrophy In Singapore

, 2015
Autosomal dominant optic atrophy (ADOA) is a ubiquitous condition causing bilateral visual loss, most commonly related to mutations in the OPA1 gene, mapped on the chromosome 3q28-q29. Recent data suggests a minimum prevalence of 4.07/100 000 in northern
Sharon L. Tow; Jing-Liang Loo; P. Amati-Bonneau; D. Bonneau; V. Procaccio; P. Reynier; Dan Milea, Sharon L. Tow; Jingliang Loo; Patrizia Amati+AC0-Bonneau; Dominique Bonneau; Vincent Procaccio; Pascal Reynier; Dan Milea   +1 more
core  

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a Turkish family.

, 2002
PURPOSE: To describe the clinical features, mode of inheritance, and linkage analysis of ten affected members of a three-generation family with progressive optic atrophy and progressive hearing loss. MATERIALS AND METHODS: The proband, a 10-year-old boy,
Bayramoğlu I, Cetin OG, Sahiner T, Wollnik B, Ozden S, Yüksel-Apak M, Düzcan, Füsun   +6 more
core   +1 more source

Drosophila model to clarify the pathological significance of OPA1 in autosomal dominant optic atrophy

eLife
Autosomal dominant optic atrophy (DOA) is a progressive form of blindness caused by degeneration of retinal ganglion cells and their axons, mainly caused by mutations in the OPA1 mitochondrial dynamin like GTPase (OPA1) gene.
Yohei Nitta, Jiro Osaka, Ryuto Maki, Satoko Hakeda-Suzuki, Emiko Suzuki, Satoshi Ueki, Takashi Suzuki, Atsushi Sugie   +7 more
doaj   +1 more source

A Novel OPA1 Mutation in Autosomal Dominant Optic Atrophy

, 2015
Autosomal dominant optic atrophy (ADOA), or Kjer\u27s disease, often overlaps clinically with other forms of optic atrophy making diagnosis challenging.
Jordan A. Margo; Jana A. Bregman; Vivian Rismondo
core