Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Robust and reproducible population receptive field mapping in patients with retinal pathologies.

Eye (London, England)·2026
Same author

A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discovery.

medRxiv : the preprint server for health sciences·2026
Same author

Visual acuities in patients with autosomal recessive retinitis pigmentosa associated with four rod phototransduction genes.

Eye (London, England)·2026
Same author

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

NPJ genomic medicine·2026
Same author

Unusual presentation of cone dysfunction consequent upon a homozygous <i>FAM161A</i> variant.

Ophthalmic genetics·2026

Related Experiment Video

Updated: Dec 31, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.1K

Macular maldevelopment in ATF6-mediated retinal dysfunction.

Markus Ritter1,2, Gavin Arno3, Rola Ba-Abbad1,3

  • 1Moorfields Eye Hospital, London, UK.

Ophthalmic Genetics
|January 5, 2020
PubMed
Summary
This summary is machine-generated.

Achromatopsia linked to ATF6 gene mutations can cause severe macular issues. This study details two cases, expanding the known phenotype and suggesting preserved S-cone function in some patients.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Achromatopsia is linked to mutations in the ATF6 gene.
  • Previously described phenotypes include rod-monochromatism and foveal hypoplasia.
Keywords:
ATF6Achromatopsiamacular maldevelopment

More Related Videos

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
07:22

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

11.8K
Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog
09:29

Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog

Published on: October 13, 2023

2.1K

Related Experiment Videos

Last Updated: Dec 31, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.1K
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
07:22

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases

Published on: March 11, 2016

11.8K
Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog
09:29

Author Spotlight: Exploring Retinal Regeneration Mechanisms in the Xenopus Frog

Published on: October 13, 2023

2.1K