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

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
Notch Signaling Pathway03:14

Notch Signaling Pathway

4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
Pleiotropy01:33

Pleiotropy

40.5K
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,...
40.5K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

252
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
252
Lethal Alleles02:41

Lethal Alleles

15.5K
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
15.5K

You might also read

Related Articles

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

Sort by
Same author

Recurrent febrile illness as a presenting pattern of <i>Vibrio albensis</i> bacteremia in an immunocompetent adult: A case report and literature review.

IDCases·2026
Same author

Association between distributed leadership and teachers' organizational commitment: Evidence from public and private schools in the United Arab Emirates.

PloS one·2026
Same author

Concurrent septic shock and massive renal hematoma following flexible ureteroscopy resulting in emergency nephrectomy: a case report.

BMC urology·2026
Same author

Genetic Prediction of Keratoplasty in Fuchs Endothelial Corneal Dystrophy.

Ophthalmology·2026
Same author

Prevalence and antimicrobial resistance patterns in patients with blood stream infections: a four-year retrospective study at a tertiary healthcare center in Lebanon.

BMC microbiology·2026
Same author

Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.

American journal of human genetics·2026
Same journal

Reply to Comment on Visual Field Progression in Glaucoma Patients with Delayed Follow-Up.

American journal of ophthalmology·2026
Same journal

Comment on: "Safety and efficiency reducing retinopathy of prematurity guideline sensitivity: an external validation using a large US-based dataset".

American journal of ophthalmology·2026
Same journal

Reply to Comment on "Clinicopathological and Imaging Distinction Between Ocular Adnexal MALT Lymphoma and IgG4-Related Ophthalmic Disease".

American journal of ophthalmology·2026
Same journal

Comment on: Visual Field Progression in Glaucoma Patients With Delayed Follow-Up.

American journal of ophthalmology·2026
Same journal

Corneal sensitivity changes and nerve plexus abnormalities in noninfectious anterior uveitis.

American journal of ophthalmology·2026
Same journal

Role of Menopausal Hormone Therapy on Strabismus, Strabismus Surgery, and Reoperation Rates.

American journal of ophthalmology·2026
See all related articles

Related Experiment Video

Updated: Jul 11, 2025

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

310

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.

Karynne Patterson1, Jessica X Chong2, Doug D Chung3

  • 1From the Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA (K.P., M.J.B.).

American Journal of Ophthalmology
|November 16, 2023
PubMed
Summary
This summary is machine-generated.

Genetic variants in MCOLN1 (mucolipin 1) are the primary cause of Lisch epithelial corneal dystrophy (LECD). MCOLN1 haploinsufficiency explains LECD, with some carriers showing reduced penetrance and variable expressivity.

More Related Videos

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

8.4K
Author Spotlight: Advancing Research in Corneal Opacity Treatment and Regeneration
07:39

Author Spotlight: Advancing Research in Corneal Opacity Treatment and Regeneration

Published on: August 4, 2023

2.0K

Related Experiment Videos

Last Updated: Jul 11, 2025

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures
04:48

Establishing a Severe Corneal Inflammation Model in Rats Based on Corneal Epithelium Curettage Combined with Corneal Sutures

Published on: November 22, 2024

310
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

8.4K
Author Spotlight: Advancing Research in Corneal Opacity Treatment and Regeneration
07:39

Author Spotlight: Advancing Research in Corneal Opacity Treatment and Regeneration

Published on: August 4, 2023

2.0K

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Lisch epithelial corneal dystrophy (LECD) is a rare inherited eye condition affecting corneal clarity.
  • The genetic basis of LECD has been investigated to understand its underlying molecular mechanisms.

Purpose of the Study:

  • To identify the genetic etiology of Lisch epithelial corneal dystrophy (LECD).

Main Methods:

  • A multicenter cohort study involving 27 individuals with LECD from 17 families.
  • Next-generation sequencing and Sanger sequencing were employed to identify pathogenic variants.
  • Functional testing was performed on identified MCOLN1 variants.

Main Results:

  • Nine rare heterozygous MCOLN1 variants were found in 23 of 27 affected individuals, leading to MCOLN1 haploinsufficiency.
  • Seven variants were truncating, and one missense variant showed impaired function.
  • Four LECD-associated MCOLN1 variants cause mucolipidosis IV (MLIV) in the homozygous/compound-heterozygous state, but parents with heterozygous variants did not exhibit LECD.

Conclusions:

  • MCOLN1 haploinsufficiency is the major genetic cause of LECD.
  • Overlapping clinical features suggest that LECD can arise from MCOLN1 haploinsufficiency, potentially with variable expressivity and reduced penetrance.