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

Punctiform and polychromatic pre-Descemet's dominant corneal dystrophy.

D Fernandez-Sasso, J E Acosta, E Malbran

    The British Journal of Ophthalmology
    |May 1, 1979
    PubMed
    Summary

    A novel hereditary corneal dystrophy, characterized by punctiform opacities, is identified. This pre-Descemet

    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

    Treatment patterns from 647 patients with Gaucher disease: An analysis from the Gaucher Outcome Survey.

    Blood cells, molecules & diseases·2016
    Same author

    In favor of the triple procedure.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2001
    Same author

    Lamellar keratoplasty in keratoconus.

    Ophthalmology·2001
    Same author

    [Indications and techniques for scleral fixation and suturing of intraocular lenses to the posterior surface of the iris].

    Klinika oczna·1994
    Same author

    [Retinopathy associated with acute pancreatitis].

    Medicina·1994
    Same author

    Closed-system phacoemulsification and posterior chamber implant combined with penetrating keratoplasty.

    Ophthalmic surgery·1993

    Area of Science:

    • Ophthalmology
    • Genetics
    • Corneal Diseases

    Background:

    • Corneal dystrophies represent a group of inherited eye disorders affecting the cornea.
    • Pre-Descemet's dystrophies are a subset characterized by opacities anterior to Descemet's membrane.
    • Accurate diagnosis and understanding of inheritance patterns are crucial for patient management.

    Purpose of the Study:

    • To describe a newly identified type of pre-Descemet's corneal dystrophy.
    • To detail the clinical characteristics and inheritance pattern of this dystrophy.
    • To establish diagnostic criteria for this specific corneal condition.

    Main Methods:

    • Clinical examination using slit-lamp biomicroscopy.
    • Family pedigree analysis to determine the mode of inheritance.
    • Observation of affected individuals across multiple generations.

    Main Results:

    • A novel dystrophy presents with punctiform, polychromatic, uniformly sized opacities.
    • Opacities are evenly distributed across the entire cornea.
    • The condition is hereditary, following an autosomal mode of inheritance with high penetrance, expressivity, and specificity.

    Conclusions:

    • A distinct pre-Descemet's corneal dystrophy has been identified.
    • Diagnosis relies solely on slit-lamp examination due to lack of visual impairment.
    • The observed autosomal inheritance pattern in four generations highlights its genetic basis.

    Related Experiment Videos