(Q35590374)

9 August 2017

title

Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy (English)

1 reference

autosomal dominant optic atrophy

9 August 2017

main subject

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author name string

M Votruba

series ordinal

1

1 reference

9 August 2017

D Thiselton

series ordinal

2

1 reference

9 August 2017

S S Bhattacharya

series ordinal

3

1 reference

9 August 2017

language of work or name

English

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publication date

1 January 2003

1 reference

British Journal of Ophthalmology

9 August 2017

published in

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9 August 2017

volume

87

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9 August 2017

issue

1

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9 August 2017

page(s)

48-53

1 reference

Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Mutation spectrum and splicing variants in the OPA1 gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Division versus fusion: Dnm1p and Fzo1p antagonistically regulate mitochondrial shape

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

The pattern electroretinogram in anterior visual pathway dysfunction and its relationship to the pattern visual evoked potential: a personal clinical review of 743 eyes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Localised wedge shaped defects of the retinal nerve fibre layer in glaucoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Nonglaucomatous excavation of the optic disc

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Types of acquired colour deficiencies caused by autosomal-dominant infantile optic atrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Significance of abnormal pattern electroretinography in anterior visual pathway dysfunction

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Difficulty differentiating Leber's from dominant optic neuropathy in a patient with remote visual loss

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Color vision in dominant optic atrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Mitochondrial DNA maintenance in yeast requires a protein containing a region related to the GTP-binding domain of dynamin

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

A Clinicopathologic Study of Autosomal Dominant Optic Atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Dominant optic atrophy. The clinical profile

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Psychophysical and visual evoked potential findings in hereditary optic atrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Identification of a fission yeast dynamin-related protein involved in mitochondrial DNA maintenance.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

Autosomal dominant optic atrophy. A spectrum of disability.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771445

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

26 September 2018

1 reference

12 December 2020

Parapapillary chorioretinal atrophy in patients with ocular hypertension. II. An evaluation of progressive changes

1 reference

12 December 2020

Colour discrimination ellipses in patients with dominant optic atrophy

1 reference

12 December 2020

MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy

1 reference

12 December 2020

Gray crescent in the optic nerve head

1 reference

12 December 2020

Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3.

1 reference

12 December 2020

Four families with the dominant infantile form of optic nerve atrophy

1 reference

12 December 2020

Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy

1 reference

12 December 2020

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

1 reference

12 December 2020

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

1 reference

12 December 2020

Electrophysiological discrimination between retinal and optic nerve disorders

1 reference

12 December 2020

An Autosomal Dominant Form of Low-Tension Glaucoma

1 reference

12 December 2020

Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter

1 reference

12 December 2020

Concordance of parapapillary chorioretinal atrophy in ocular hypertension with visual field defects that accompany glaucoma development

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.87.1.48

1 reference

9 August 2017

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9 August 2017

1 reference