(Q36683606)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

Leber congenital amaurosis

22 February 2020

main subject

congenital disorder

0 references

1 reference

Alejandro J Roman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Artur V Cideciyan

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Sharon B Schwartz

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Melani B Olivares

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

English

0 references

publication date

15 February 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

22 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

1378-1383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

Identification of DES1 as a vitamin A isomerase in Müller glial cells of the retina

22 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

A microparticle/hydrogel combination drug-delivery system for sustained release of retinoids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

RPGR-associated retinal degeneration in human X-linked RP and a murine model

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

AAV2 gene therapy readministration in three adults with congenital 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=3597193

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Vision test variability in retinitis pigmentosa and psychosocial factors

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Retinal disease course in Usher syndrome 1B due to MYO7A mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Clinical trial of lutein in patients with retinitis pigmentosa receiving vitamin A

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Human cone photoreceptor dependence on RPE65 isomerase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Assessing agreement between measurements recorded on a ratio scale in sports medicine and sports science

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Treatment possibilities for retinitis pigmentosa

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Clinical grading and the effects of scaling.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

How sensitive to clinical change are ETDRS logMAR visual acuity measurements?

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3597193

Submacular surgery trials randomized pilot trial of laser photocoagulation versus surgery for recurrent choroidal neovascularization secondary to age-related macular degeneration: i. ophthalmic outcomes submacular surgery trials pilot study report nu

20 October 2018

1 reference

12 December 2020

New visual acuity charts for clinical research

1 reference

12 December 2020

Variability of visual field measurements in normal subjects and patients with retinitis pigmentosa

1 reference

12 December 2020

Natural course of retinitis pigmentosa over a three-year interval

1 reference

12 December 2020

Photocoagulation for diabetic macular edema. Early Treatment Diabetic Retinopathy Study report number 1. Early Treatment Diabetic Retinopathy Study research group

1 reference

12 December 2020

Computerized quantitative analysis of kinetic visual fields

1 reference

12 December 2020

Repeated visual acuity measurement: establishing the patient's own criterion for change.

1 reference

12 December 2020

Visual acuity scored by the letter-by-letter or probit methods has lower retest variability than the line assignment method

1 reference

12 December 2020

Yearly rates of rod and cone functional loss in retinitis pigmentosa and cone-rod dystrophy

1 reference

12 December 2020

Natural course of visual field loss in patients with Type 2 Usher syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1167/IOVS.12-11341

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23341016%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

PubMed publication ID

23341016

1 reference