Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

24 Jan 2022

Abstract excerpt

BACKGROUNDOutcome measures sensitive to disease progression are needed for ATP-binding cassette, sub-family A, member 4-associated (ABCA4-associated) retinopathy. We aimed to quantify ellipsoid zone (EZ) loss and photoreceptor degeneration beyond EZ-loss in ABCA4-associated retinopathy and investigate associations between photoreceptor degeneration, genotype, and age.METHODSWe analyzed 132 eyes from 66 patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Photoreceptor and optogenetics research
Share to Retinal Development and Disorders
Share to Retinal Diseases and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 35076026
DOI: 10.1172/jci.insight.155373

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlatesPMID 35076026Read ↗

Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.Semantic proximity Read ↗

Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 DiseaseSemantic proximity Read ↗

Association Between Genotype and Phenotype Severity in ABCA4-Associated Retinopathy.Semantic proximity Read ↗

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.Semantic proximity Read ↗

Photoreceptor layer thinning is an early biomarker for age-related macular degeneration development: Epidemiological and genetic evidence from UK Biobank optical coherence tomography dataSemantic proximity Read ↗

Quantification of Optical Coherence Tomography Features in >3500 Patients with Inherited Retinal Disease Reveals Novel Genotype-Phenotype AssociationsSemantic proximity Read ↗

Deep Learning-Based SD-OCT Layer Segmentation Quantifies Outer Retina Changes in Patients With Biallelic RPE65 Mutations Undergoing Gene Therapy.Semantic proximity Read ↗

Retinal Structure in RPE65-Associated Retinal Dystrophy.Semantic proximity Read ↗

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic MutationsSemantic proximity Read ↗

Disease Progression in CNGA3 and CNGB3 Retinopathy; Characteristics of Slovenian Cohort and Proposed OCT Staging Based on Pooled Data from 126 Patients from 7 Studies.Semantic proximity Read ↗

Analysis of the Outer Retinal Bands in ABCA4 and PRPH2-Associated Retinopathy using OCTSemantic proximity Read ↗

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.