Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease (Q36400102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22959359%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease (English)

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congenital stationary night blindness

12 February 2020

main subject

congenital disorder

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0 references

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12 February 2020

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12 February 2020

Maureen Neitz

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12 February 2020

Pooja Godara

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12 February 2020

Robert F Cooper

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12 February 2020

Panagiotis I Sergouniotis

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12 February 2020

Melissa A Diederichs

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12 February 2020

Megan R Streb

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12 February 2020

Mohamed A Genead

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12 February 2020

J Jason McAnany

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12 February 2020

Andrew R Webster

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12 February 2020

Anthony T Moore

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12 February 2020

Adam M Dubis

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12 February 2020

Gerald A Fishman

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12 February 2020

Dennis P Han

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12 February 2020

Michel Michaelides

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12 February 2020

Joseph Carroll

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12 February 2020

language of work or name

English

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publication date

7 September 2012

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American Journal of Ophthalmology

12 February 2020

published in

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12 February 2020

volume

154

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12 February 2020

issue

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12 February 2020

page(s)

987-1001.e1

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Repeatability of in vivo parafoveal cone density and spacing measurements

12 February 2020

cites work

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GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness

30 September 2017

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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

30 September 2017

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Spatial and temporal variation of rod photoreceptor reflectance in the human retina

30 September 2017

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Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa

30 September 2017

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Anatomical correlates to the bands seen in the outer retina by optical coherence tomography: literature review and model

30 September 2017

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Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope

30 September 2017

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30 September 2017

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Spectral-Domain Optical Coherence Tomography Findings in the Mizuo–Nakamura Phenomenon of Oguchi Disease

30 September 2017

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Temporal changes of human cone photoreceptors observed in vivo with SLO/OCT

30 September 2017

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Imaging outer segment renewal in living human cone photoreceptors.

30 September 2017

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TRPM1 mutations are associated with the complete form of congenital stationary night blindness

30 September 2017

1 reference

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Arrested development: high-resolution imaging of foveal morphology in albinism

30 September 2017

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Variable optical activation of human cone photoreceptors visualized using a short coherence light source

30 September 2017

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Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin

30 September 2017

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TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness

30 September 2017

1 reference

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Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

30 September 2017

1 reference

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Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

30 September 2017

1 reference

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Retinal imaging using commercial broadband optical coherence tomography

30 September 2017

1 reference

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Genotyping microarray for CSNB-associated genes.

30 September 2017

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In vivo functional imaging of human cone photoreceptors.

30 September 2017

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Adaptive optics flood-illumination camera for high speed retinal imaging.

30 September 2017

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Comparisons of structural and functional abnormalities in mouse b-wave mutants.

30 September 2017

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Intrinsic signals from human cone photoreceptors

30 September 2017

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The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction

30 September 2017

1 reference

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Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy

30 September 2017

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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness

30 September 2017

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Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.

30 September 2017

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Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

30 September 2017

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Rhodopsin phosphorylation: 30 years later

30 September 2017

1 reference

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Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction.

30 September 2017

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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

30 September 2017

1 reference

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Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease

30 September 2017

1 reference

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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F

30 September 2017

1 reference

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Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase

30 September 2017

1 reference

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A naturally occurring mouse model of X-linked congenital stationary night blindness

30 September 2017

1 reference

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Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Congenital stationary nightblindness

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Human photoreceptor topography

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Correlation of clinicopathologic findings in a patient. Congenital night blindness, branch retinal vein occlusion, cilioretinal artery, drusen of the optic nerve head, and intraretinal pigmented lesion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Congenital stationary night blindness with negative electroretinogram. A new classification

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Optical coherence tomographic evaluation of the outer retinal architecture in Oguchi disease

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Automated identification of cone photoreceptors in adaptive optics retinal images

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

The reflectance of single cones in the living human eye.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3498541

[Analysis of the human electroretinogram]

21 September 2018

1 reference

12 December 2020

Congenital stationary night blindness: mutation update and clinical variability

1 reference

12 December 2020

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

12 December 2020

On- and off-responses in photopic electroretinogram in complete and incomplete types of congenital stationary night blindness

1 reference

12 December 2020

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

1 reference

12 December 2020

Shortening of the rod outer segment in Oguchi disease

1 reference

12 December 2020

Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the <i>SAG</i> Gene

1 reference

12 December 2020

Congenital stationary night blindness with myopia: a clinico-pathologic study

1 reference

12 December 2020

10.1016/J.AJO.2012.06.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22959359%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22959359%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

PubMed publication ID

22959359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22959359%20AND%20SRC:MED&resulttype=core&format=json