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 Experiment Videos

Genotype/phenotype correlations in aniridia

S K Gupta1, I De Becker, F Tremblay

  • 1Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.

American Journal of Ophthalmology
|September 4, 1998
PubMed
Summary
This summary is machine-generated.

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

Association between glucose intolerance and bacterial colonisation in an adult population with cystic fibrosis, emergence of Stenotrophomonas maltophilia.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2017
Same author

Ralstonia mannitolilytica in cystic fibrosis: A new predictor of worse outcomes.

Respiratory medicine case reports·2016
Same author

Influence of maternal physical activity on infant's body composition.

Pediatric obesity·2016
Same author

CYSTIC FIBROSIS AND ANTIBIOTIC HYPERSENSITIVITY: PRESENT KNOWLEDGE AND PRACTICAL APPROACH.

Journal of biological regulators and homeostatic agents·2015
Same author

Nitrogen potential recovery and concentration of ammonia from swine manure using electrodialysis coupled with air stripping.

Journal of environmental management·2011
Same author

Validation study of the s classification for melanoma patients with positive sentinel nodes: the Montreal experience.

Annals of surgical oncology·2010
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
Same journal

Forging Ahead: The Need for Improved Representation in Academic Ophthalmology.

American journal of ophthalmology·2026
Same journal

Clinical Utility of Ultra-Widefield Swept-Source OCT for Intraocular Tumors: Comparison With Ultrasonography, SD-OCT, and MRI.

American journal of ophthalmology·2026
See all related articles

Researchers identified novel mutations in the PAX6 gene in Maritime Canada aniridia patients. Some mutation types correlated with specific aniridia symptoms, suggesting genotype-phenotype links.

Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Aniridia is a rare genetic disorder characterized by the absence of the iris.
  • PAX6 gene mutations are a known cause of aniridia.
  • Understanding genotype-phenotype correlations is crucial for predicting disease severity and progression.

Purpose of the Study:

  • To identify and characterize PAX6 gene mutations in familial and sporadic aniridia cases in Maritime Canada.
  • To investigate potential correlations between specific PAX6 mutations and aniridia phenotypes within the study cohort.

Main Methods:

  • Recruitment of 12 probands and 4 affected relatives with aniridia from Maritime Canada.
  • Clinical data collection through chart review and electroretinogram (ERG) testing.

Related Experiment Videos

  • PAX6 gene mutation detection using single-strand conformation polymorphism (SSCP) and sequence analysis.

    • Main Results:

    • Eleven distinct PAX6 mutations were identified, with 10 being novel.
    • Congenital cataracts were associated with mutations in the C-terminal proline-serine-threonine (PST)-rich domain of PAX6.
    • ERG results showed reduced scotopic b-wave amplitudes, with the most significant reductions observed in patients with mutations affecting the paired domain.

    Conclusions:

    • Specific aspects of the aniridia phenotype appear to correlate with the predicted impact of point mutations on the paired and PST domains of the PAX6 protein.
    • These findings contribute to a better understanding of the molecular basis of aniridia and its clinical manifestations.