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Scholar Results 1 - 10 of about 101 related to Votruba: Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. (0.09 sec) 

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy


M Votruba, D Thiselton, SS Bhattacharya - British Journal of …, 2003 - bjo.bmj.com
Results: Mean age at time of examination was 37 years and mean visual acuity was 6/24. Disc
morphology showed temporal disc pallor in 30 eyes (52%) and total disc pallor in 28 eyes
(48%). At least one disc showed a cup to disc ratio of more than 0.5 in 18 patients (28 ...
Cited by 39 - Related articles - BL Direct - All 10 versions

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy


MVD Thiselton, SS Bhattacharya - 英国眼科学杂志, 2003 - journal.shouxi.net
Results: Mean age at time of examination was 37 years and mean visual acuity was 6/24. Disc
morphology showed temporal disc pallor in 30 eyes (52%) and total disc pallor in 28 eyes
(48%). At least one disc showed a cup to disc ratio of more than 0.5 in 18 patients (28 ...
Related articles - Cached

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a …


JB Kerrison, VJ Arnould, JM Ferraz Sallum … - Archives of …, 1999 - archopht.highwire.org
You are seeing this message because your Web browser does not support basic Web
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your experience on this site better. ... Add to CiteULike Add to Connotea Add to ...
Cited by 64 - Related articles - BL Direct - All 4 versions

Disc excavation in dominant optic atrophy Differentiation from normal tension …


AV Fournier, KF Damji, DL Epstein, SC Pollock - Ophthalmology, 2001 - Elsevier
In patients with dominant optic atrophy (DOA, Kjer type), excavation of the optic nerve
develops, and these patients may be misdiagnosed as having normal tension glaucoma
(NTG). This study examined disc morphologic features in patients with DOA and explored ...
Cited by 31 - Related articles - BL Direct - All 15 versions

A gene for X-linked optic atrophy is closely linked to the Xp11. 4-Xp11. 2 region of …

- nih.gov [PDF] 
JJM Assink, NT Tijmes, JB Brink, RJ Oostra, FC … - The American Journal of …, 1997 - Elsevier
The aim of this study was to identify the chromosomal location of the disease-causing gene in
a family apparently segregating X-linked optic atrophy. A large family of 45 individuals with a
four-generation history of X-linked optic atrophy was reexamined in a full ophthalmic as ...
Cited by 29 - Related articles - BL Direct - All 9 versions

Optic disc excavation in the atrophic stage of Leber's hereditary optic neuropathy: …


Y Mashima, I Kimura, Y Yamamoto, H Ohde, Y … - Graefe's Archive for …, 2003 - Springer
Abstract Background: Abnormal optic disc excavations are reportedly seen in patients with Leber's
heredi- tary optic neuropathy (LHON), a mi- tochondrial dysfunction disease. We examined the
disc morphology in the eyes of patients with LHON at the atrophic stage and compared it ...
Cited by 13 - Related articles - BL Direct - All 3 versions

Progressive autosomal dominant optic atrophy and sensorineural hearing loss in a …


S Özden, F Düzcan, B Wollnik, GO Çetin, T … - Ophthalmic …, 2002 - informahealthcare.com
Abstract Purpose: To describe the clinical features, mode of inher- itance, 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, presented with ...
Cited by 15 - Related articles - BL Direct - All 4 versions

A third locus for dominant optic atrophy on chromosome 22q

- bmj.com [PDF] 
F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, … - British Medical …, 2005 - jmg.bmj.com
F Barbet, S Hakiki, C Orssaud, S Gerber, I Perrault, S Hanein, D Ducroq, JL Dufier, A
Munnich, J Kaplan, JM Rozet ..................................................................................................................
............. ... J Med Genet 2005;42:e1 (http://www.jmedgenet.com/cgi/content/full/42/1/e1). ...
Cited by 24 - Related articles - All 6 versions

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that …

- bmj.com
NJ Marchbank, JE Craig, JP Leek, M Toohey, AJ … - British Medical …, 2002 - jmg.bmj.com
Dominant optic atrophy (DOA) is the most common form of autosomally inherited optic
neuropathy. 1 The disease typically presents in childhood with slow bilateral loss of visual
acuity, visual field defects, abnormal colour discrimination, and pallor of the optic discs. ...
Cited by 33 - Related articles - All 6 versions

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal …

- iovs.org
DL Thiselton, C Alexander, JW Taanman, S Brooks, T … - … ophthalmology & visual …, 2002 - ARVO
1 From the Department of Molecular Genetics, Institute of Ophthalmology, London, United
Kingdom; the 3 Department of Clinical Neurosciences, Royal Free and University College Medical
School, London, United Kingdom; the 4 National Eye Clinic for the Visually Impaired, ...
Cited by 51 - Related articles - BL Direct - All 6 versions


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