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

Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy.

Optometry and vision science : official publication of the American Academy of Optometry - 1 Feb 2022

Monferrer-Adsuara Clara, Montero-Hernández Javier, Castro-Navarro Verónica, Remolí-Sargues Lidia, Cervera-Taulet Enrique

Abstract excerpt

SIGNIFICANCE: Cone dystrophies and cone-rod dystrophies are a group of rare inherited pathologies characterized by degeneration of cone photoreceptors and subsequent rod involvement. The identification of causative genes is essential for diagnosis, and advanced imaging is acquiring great value in the characterization of the different phenotypic expressions. PURPOSE: We describe genotype-phenotype associations of...

Read the complete abstract on PubMed

Topics

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

Share to Retinal Cone Photoreceptor Cells
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cone-Rod Dystrophies

Share to Electroretinography

Share to Fluorescein Angiography

Share to Multimodal Imaging

Share to Phenotype

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 34897229
DOI: 10.1097/OPX.0000000000001849

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Case Report: Multimodal Imaging Features of an ABCA4 Cone Dystrophy.PMID 34897229Read ↗

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.Semantic proximity Read ↗

Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod DystrophiesSemantic proximity Read ↗

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.Semantic proximity Read ↗

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.Semantic proximity Read ↗

Peripheral pigmented lesions in ABCA4-associated retinopathy.Semantic proximity Read ↗

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

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.Semantic proximity Read ↗

Multimodal imaging in CABP4-related retinopathy.Semantic proximity Read ↗

Unilateral cone dysfunction with asymmetric maculopathy - Clinical features, multimodal imaging and genetic analysis of a novel phenotype.Semantic proximity Read ↗

Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia.Semantic proximity Read ↗

Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophySemantic proximity Read ↗

Quantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.Semantic proximity Read ↗

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