(Q34166706)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

A prospective longitudinal study of retinal structure and function in achromatopsia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Alfredo Dubra

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Marko Nardini

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1

Jonathan Aboshiha

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

14

Michel Michaelides

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

2

Adam M Dubis

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

3

Jill Cowing

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

5

Venki Sundaram

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

author name string

Rachel T A Fahy

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Robin R Ali

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Andrew R Webster

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Anthony T Moore

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Gary Rubin

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Joseph Carroll

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

language of work or name

English

0 references

publication date

7 August 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

Investigative Ophthalmology Visual Science

12 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

5733-5743

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.

12 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Retinal structure and function in achromatopsia: implications for gene therapy.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Observation of cone and rod photoreceptors in normal subjects and patients using a new generation adaptive optics scanning laser ophthalmoscope.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Photoreceptor structure and function in patients with congenital achromatopsia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

The association between percent disruption of the photoreceptor inner segment-outer segment junction and visual acuity in diabetic macular edema

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

In vivo imaging of the photoreceptor mosaic of a rod monochromat

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Fundus autofluorescence imaging: review and perspectives

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Restoration of cone vision in a mouse model of achromatopsia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Optical coherence tomography of the macula in congenital achromatopsia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Progression of geographic atrophy and impact of fundus autofluorescence patterns in age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Modelling the natural history of geographic atrophy in patients with age-related macular degeneration

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Autofluorescence characteristics of normal foveas and reconstruction of foveal autofluorescence from limited data subsets

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

The cone dysfunction syndromes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Electroretinograms in patients with achromatopsia

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Diagnostic fundus autofluorescence patterns in achromatopsia.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

High-resolution in vivo imaging in achromatopsia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Gene therapy rescues cone function in congenital achromatopsia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Disruption of the photoreceptor inner segment/outer segment layer on spectral domain-optical coherence tomography is a predictor of poor visual acuity in patients with epiretinal membranes

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Reproducibility of retinal thickness measurements in healthy subjects using spectralis optical coherence tomography

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Genetic basis of total colourblindness among the Pingelapese islanders

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4161486

Spatial and temporal limits of vision in the achromat

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25103266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25103266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Fixation stability measurement using the MP1 microperimeter

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25103266

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1167/IOVS.14-14937

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25103266%20AND%20SRC:MED&resulttype=core&format=json