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

Macular maldevelopment in ATF6-mediated retinal dysfunction.

Ophthalmic genetics - 1 Dec 2019

Ritter Markus, Arno Gavin, Ba-Abbad Rola, Holder Graham E, Webster Andrew R

Abstract excerpt

Background: Achromatopsia has been previously associated with mutations in the ATF6 gene. Rod-monochromatism, foveal hypoplasia, and disruption of the subfoveal photoreceptor layer are described as phenotypical features. We report detailed structural and electrophysiological assessment of two patients from two families, one manifesting severe macular maldevelopment and one with foveal hypoplasia.Materials and...

Read the complete abstract on PubMed

Topics

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

Share to Activating Transcription Factor 6
Share to Color Vision Defects
Share to Eye Diseases, Hereditary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fovea Centralis

Share to Homozygote

Share to Macula Lutea

Share to Nystagmus, Congenital

Share to Retina

Source

Identifiers

PMID: 31900015
DOI: 10.1080/13816810.2019.1706749

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Macular maldevelopment in ATF6-mediated retinal dysfunction.PMID 31900015Read ↗

Multiexon deletion alleles of ATF6 linked to achromatopsia.Semantic proximity Read ↗

ATF6 Is Mutated in Early Onset Photoreceptor Degeneration With Macular Involvement.Semantic proximity Read ↗

Achromatopsia Showing Compound Heterozygous Mutations in ATF6 by Whole Exome Sequencing: A Rare Case Report.Semantic proximity Read ↗

Achromatopsia mutations target sequential steps of ATF6 activation.Semantic proximity Read ↗

Pathomechanisms of ATF6-Associated Cone Photoreceptor Diseases.Semantic proximity Read ↗

The Endoplasmic Reticulum Proteostasis Regulator ATF6 is Essential for Human Cone Photoreceptor DevelopmentSemantic proximity Read ↗

Mutation of ATF6 causes autosomal recessive achromatopsia.Semantic proximity Read ↗

Genotypic and Phenotypic Spectrum of Foveal HypoplasiaSemantic proximity Read ↗

Familial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.Semantic proximity Read ↗

Deep Phenotyping of PDE6C-Associated Achromatopsia.Semantic proximity Read ↗

Adult-onset foveomacular vitelliform dystrophy: A fresh perspective.Semantic proximity Read ↗

Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.Semantic proximity Read ↗

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