Jove
Visualize
Contact Us

Related Experiment Videos

Ocular coloboma.

R A Pagon

    Survey of Ophthalmology
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Ocular coloboma is a common eye malformation with varied causes, including genetic inheritance and syndromes. Determining prognosis and recurrence risk requires thorough patient and family evaluation.

    Related Experiment Videos

    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

    Development of the Critical Elements of Genetic Evaluation and Genetic Counseling for Genetic Professionals and Perinatologists in Washington State.

    Journal of genetic counseling·2015
    Same author

    Mother to son transmission of del(1) (q42.1q42.3).

    American journal of medical genetics·2001
    Same author

    Genetic consultation.

    The Western journal of medicine·2001
    Same author

    The helix and health: applying genetics to primary care.

    The Western journal of medicine·2001
    Same author

    Genetic testing.

    The Western journal of medicine·2001
    Same author

    Online medical genetics resources: a US perspective.

    BMJ (Clinical research ed.)·2001
    Same journal

    Trends in pediatric uveitis: A systematic review and meta-epidemiological investigation of geographic, economic, and climate factors.

    Survey of ophthalmology·2026
    Same journal

    Efficacy and safety of different intraocular therapies for non-infectious uveitis: A network meta-analysis.

    Survey of ophthalmology·2026
    Same journal

    Macular telangiectasia masqueraders.

    Survey of ophthalmology·2026
    Same journal

    Utilization of anterior segment optical coherence tomography in childhood glaucoma: A systematic review.

    Survey of ophthalmology·2026
    Same journal

    Peripapillary pachychoroid syndrome: Clinical and imaging features, diagnostic differentiation and therapeutic strategies.

    Survey of ophthalmology·2026
    Same journal

    Prognostic factors and postoperative outcomes in pediatric cataract patients: A systematic review and meta-analysis.

    Survey of ophthalmology·2026
    See all related articles
    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

    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Ocular coloboma is a frequent congenital eye malformation.
    • It encompasses a range of anomalies, from iris coloboma to anophthalmos.
    • The etiology of coloboma is diverse.

    Purpose of the Study:

    • To summarize the etiologic heterogeneity of ocular coloboma.
    • To highlight the implications for prognosis and recurrence risk assessment.

    Main Methods:

    • Review of existing literature on ocular coloboma.
    • Analysis of inheritance patterns (autosomal dominant and recessive).
    • Consideration of syndromic and chromosomal causes.

    Main Results:

    • Ocular coloboma can be inherited in autosomal dominant or recessive patterns.
  • It can also be associated with malformation syndromes or chromosomal abnormalities.
  • Isolated coloboma often follows Mendelian inheritance.

    • Conclusions:

    • Complete evaluation is crucial for understanding prognosis.
    • Accurate recurrence risk assessment requires comprehensive family studies.
    • Ocular coloboma management necessitates a detailed diagnostic approach.