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

iPS Cell Differentiation01:22

iPS Cell Differentiation

The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.

You might also read

Related Articles

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

Sort by
Same author

Vitreous Hemorrhage Induced by a Persistent Hyaloid Artery.

Case reports in ophthalmological medicine·2026
Same author

Early genetic evolution of driver mutations in uveal melanoma.

Nature communications·2025
Same author

Comparing Rhegmatogenous and Tractional Retinal Detachment in Regressed Retinopathy of Prematurity: An International, Multicenter Study.

American journal of ophthalmology·2025
Same author

Pars plana vitrectomy in progressive severe stellate non-hereditary idiopathic foveomacular retinoschisis (SNIFR): surgical outcomes and considerations for pathophysiology.

International journal of retina and vitreous·2025
Same author

Exploring the role of hemiarthroplasty in revision shoulder arthroplasty: a systematic review.

Journal of orthopaedics and traumatology : official journal of the Italian Society of Orthopaedics and Traumatology·2025
Same author

Inclusive and accessible implementation of telemedicine: Insights from the United Nations international expert roundtable.

Health informatics journal·2025
Same journal

Acute Paracentral Scotoma Following Cosmetic Penile Filler Injection.

Retinal cases & brief reports·2026
Same journal

Intravitreous Methotrexate and Rituximab for Bilateral Diffuse Uveal Melanocytic Proliferation (BDUMP).

Retinal cases & brief reports·2026
Same journal

Multimodal imaging of ASHH in a case of Scrub Typhus Retinopathy.

Retinal cases & brief reports·2026
Same journal

Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome.

Retinal cases & brief reports·2026
Same journal

Macular Choroidal Neovascularization in Peripapillary Hyperreflective Ovoid Mass-Like Structures (PHOMS): case report.

Retinal cases & brief reports·2026
Same journal

Endogenous Streptococcus Anginosus Endophthalmitis: A Case Report and Review of the Literature.

Retinal cases & brief reports·2026
See all related articles

Related Experiment Video

Updated: May 11, 2026

A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse
04:55

A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse

Published on: November 17, 2016

8.3K

BILATERAL MACULAR DYSPLASIA IN COFFIN-SIRIS SYNDROME.

Nahrain Putris Schumaier1,2, Sneha Dodaballapur1, Tianyu Liu3

  • 1Oakland University William Beaumont School of Medicine, Royal Oak, Michigan, USA.

Retinal Cases & Brief Reports
|November 12, 2024
PubMed
Summary
This summary is machine-generated.

This case report details a child with Coffin-Siris syndrome (CSS) and a CNGB1 variant who developed bilateral macular dysplasia. Ocular findings may expand the known phenotypes associated with CSS.

Keywords:
Coffin–Siris syndromemacular dysplasia

More Related Videos

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
08:22

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

3.9K
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

3.0K

Related Experiment Videos

Last Updated: May 11, 2026

A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse
04:55

A Simple Mechanical Procedure to Create Limbal Stem Cell Deficiency in Mouse

Published on: November 17, 2016

8.3K
Application of Optical Coherence Tomography to a Mouse Model of Retinopathy
08:22

Application of Optical Coherence Tomography to a Mouse Model of Retinopathy

Published on: January 12, 2022

3.9K
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

3.0K

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Coffin-Siris syndrome (CSS) is a rare genetic disorder characterized by developmental delay and distinctive facial features.
  • Ocular manifestations in CSS are not well-defined, with limited reports on retinal involvement.

Purpose of the Study:

  • To describe a unique case of bilateral macular dysplasia in a patient with genetically confirmed Coffin-Siris syndrome.
  • To investigate the potential association between CSS, a CNGB1 variant, and specific ocular findings.

Main Methods:

  • Case report of a 7-year-old boy with developmental delay and atypical features.
  • Whole exome sequencing to identify genetic variants.
  • Comprehensive ophthalmological examination including funduscopy and spectral-domain optical coherence tomography (SD-OCT).

Main Results:

  • The patient had genetically confirmed Coffin-Siris syndrome due to an ARID1A variant and a heterozygous CNGB1 variant of unknown significance.
  • Fundus examination revealed bilateral macular deposits and retinal pigment epithelial changes.
  • SD-OCT showed abnormalities in the ellipsoid and interdigitation zones of the macula; visual acuity remained stable over a decade with persistent macular dysplasia but no pigmentary retinopathy.

Conclusions:

  • The ocular findings, including macular dysplasia without pigmentary retinopathy, may represent an expanded phenotype of Coffin-Siris syndrome.
  • This case highlights the importance of comprehensive ophthalmological evaluation in patients with CSS.
  • The co-existing CNGB1 variant's role in the observed ocular phenotype requires further investigation.