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

Genetic Lingo01:11

Genetic Lingo

102.1K
Overview
102.1K
Pleiotropy01:33

Pleiotropy

40.3K
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,...
40.3K
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
Accessory Structures of the Eye01:17

Accessory Structures of the Eye

1.5K
Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
1.5K

You might also read

Related Articles

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

Sort by
Same author

Comment on "Machine learning and regression-based models for prediction of postoperative atrial fibrillation following coronary artery bypass grafting: A systematic review and meta-analysis".

International journal of cardiology. Cardiovascular risk and prevention·2026
Same author

Evaluation of the protective efficiency of polycarbonate goggles against firecracker-related ocular injuries.

Indian journal of ophthalmology·2026
Same author

Leave policy after stillbirth in LMICs: how much are we thinking about bereaved mothers? A scoping review.

BMJ open·2026
Same author

Comparative toxicity of nickel titanate and calcium manganite perovskite nanomaterials in human and bacterial systems: Implications for environmental and health risks.

Chemosphere·2026
Same author

Spatiotemporal simulation of mining-induced land-use transitions and impacts of early eco-rehabilitation on carbon dynamics across the mineral rich landscape, India.

Environmental research·2026
Same author

Overcoming the bottleneck of d-band holes in plasmonic photocatalysis through molecular electronic coupling.

Nanoscale·2026
Same journal

Structural, Vascular, and Functional Correlations in Advanced Glaucoma.

Journal of current ophthalmology·2026
Same journal

Comment on "Evaluation of Inflammatory Cytokines in Tears of Individuals with Dry Eye Related to Prolonged Computer Use".

Journal of current ophthalmology·2026
Same journal

Two-Year Follow-Up of Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Case Report and Literature Review.

Journal of current ophthalmology·2026
Same journal

Primary Cerebellar Agenesis in a Child with Esotropia: A Case Report and Literature Review.

Journal of current ophthalmology·2026
Same journal

Role of Muscle Biopsy in the Diagnosis and Management of Extraocular Muscle Pathologies.

Journal of current ophthalmology·2026
Same journal

Twelve-Month Visual and Anatomical Outcomes of Boston Type I Keratoprosthesis in Four Patients with Multiple Graft Failures and Severe Ocular Pathology.

Journal of current ophthalmology·2026
See all related articles

Related Experiment Video

Updated: Jun 13, 2025

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.1K

Hereditary Multiple Exostoses with Rare Ocular Finding: A Case Report.

Shashi Tanwar1, Nishtha Saini1, Krutika Boriwal1

  • 1Department of Ophthalmology, Shaheed Hasan Khan Mewati Government Medical College, Nuh, Haryana, India.

Journal of Current Ophthalmology
|September 16, 2024
PubMed
Summary
This summary is machine-generated.

Hereditary Multiple Exostoses (HME) is a rare genetic disorder. This study details a family with HME, including rare ocular findings in one patient.

Keywords:
ExostosesExostosinHereditary multiple exostosesHereditary multiple osteochondromasOcular surface mass

More Related Videos

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

3.1K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K

Related Experiment Videos

Last Updated: Jun 13, 2025

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia
06:15

Author Spotlight: Anterior HR-OCT as a Non-Invasive Tool for Characterizing Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

1.1K
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

3.1K
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

15.9K

Area of Science:

  • Genetics
  • Ophthalmology
  • Orthopedics

Background:

  • Hereditary Multiple Exostoses (HME) is an autosomal dominant genetic disorder.
  • It is caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes.
  • HME is characterized by the development of multiple osteochondromas (exostoses).

Observation:

  • A family spanning three generations was studied for HME.
  • The proband, a 14-year-old female, presented with an ocular mass and limb exostoses.
  • Ocular findings included an ocular surface mass and scleral ectasia in the right eye.

Findings:

  • A paternal family history of HME was confirmed across three generations.
  • Multiple exostoses were diagnosed in affected family members via physical examination and radiology.
  • The proband exhibited unique ocular findings in addition to HME.

Implications:

  • This case highlights the rare occurrence of ocular manifestations in Hereditary Multiple Exostoses.
  • Understanding HME's genetic basis and phenotypic variability is crucial for patient management.
  • Further research into HME-associated ocular complications may improve early detection and treatment.