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

Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

6.0K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
6.0K
Sex-linked Disorders01:43

Sex-linked Disorders

102.1K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
102.1K
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Cohesins02:20

Cohesins

4.5K
Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.5K
Pleiotropy01:33

Pleiotropy

40.4K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
40.4K

You might also read

Related Articles

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

Sort by
Same author

Simultaneous determination of ten neonicotinoid insecticides and a metabolite in human whole blood by QuEChERS coupled with UPLC-Q Exactive orbitrap high-resolution mass spectrometry.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2023
Same author

Role of dysfunctional peri-organ adipose tissue in metabolic disease.

Biochimie·2023
Same author

Metabolomics in Corneal Diseases: A Narrative Review from Clinical Aspects.

Metabolites·2023
Same author

Human Neural Stem Cell Secretome Inhibits Neuron Heme Uptake and Ferroptosis in Intracerebral Hemorrhage Through Nrf-2 Signaling Pathway.

Stem cells and development·2023
Same author

Analysis of the toxic mechanisms of fluoxastrobin on the earthworm (Eisenia fetida) using transcriptomics.

Chemosphere·2023
Same author

Rapidly Inhibiting the Inflammatory Cytokine Storms and Restoring Cellular Homeostasis to Alleviate Sepsis by Blocking Pyroptosis and Mitochondrial Apoptosis Pathways.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2023

Related Experiment Video

Updated: Jul 1, 2025

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
11:22

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on: December 22, 2014

17.8K

SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.

Jingwen Zhang1, Thales A C de Guimaraes1,2, Dorothy Thompson3

  • 1UCL Institute of Ophthalmology, University College London, London, United Kingdom.

Retinal Cases & Brief Reports
|March 4, 2024
PubMed
Summary

Shwachman-Diamond syndrome (SDS) patients can develop severe rod-cone dystrophy. This case report details a 16-year-old female with SDS and vision loss, showing slow progression over 10 years.

More Related Videos

Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions
08:04

Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions

Published on: March 20, 2021

3.6K
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.3K

Related Experiment Videos

Last Updated: Jul 1, 2025

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures
11:22

Vibratome Sectioning Mouse Retina to Prepare Photoreceptor Cultures

Published on: December 22, 2014

17.8K
Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions
08:04

Cone-Enriched Cultures from the Retina of Chicken Embryos to Study Rod to Cone Cellular Interactions

Published on: March 20, 2021

3.6K
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
08:17

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

Published on: September 22, 2017

19.3K

Area of Science:

  • Ophthalmology
  • Genetics
  • Hematology

Background:

  • Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder.
  • Ocular manifestations, particularly retinal dystrophies, are increasingly recognized in SDS patients.
  • Rod-cone dystrophy (RCD) is a significant cause of visual impairment in affected individuals.

Purpose of the Study:

  • To report a case of Shwachman-Diamond syndrome with co-occurring rod-cone dystrophy.
  • To describe the long-term visual outcomes and retinal changes in this patient.
  • To highlight the importance of ophthalmological surveillance in SDS.

Main Methods:

  • Retrospective single case report.
  • Ophthalmological examinations including visual acuity (VA), optical coherence tomography (OCT), fundus autofluorescence (FAF), flash electroretinogram (fERG), and pattern visual evoked potential (pVEP).
  • 10-year follow-up period.

Main Results:

  • A 16-year-old female with SDS presented with severe rod-cone dystrophy and reduced VA.
  • OCT revealed progressive outer retinal thinning and ellipsoid zone disruption.
  • FAF showed generalized hypoautofluorescence and a perimacular ring of hyperautofluorescence.
  • fERG confirmed severe rod-cone dystrophy; pVEP indicated macular pathway dysfunction with some preservation.

Conclusions:

  • Shwachman-Diamond syndrome can present with severe early-onset rod-cone dystrophy.
  • Slow anatomical progression of retinal changes was observed over 10 years.
  • Relative functional macular preservation was maintained, supporting a VA of 6/36 bilaterally.