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

Central areolar pigment epithelial dystrophy

C L Fetkenhour, N Gurney, J G Dobbie

    American Journal of Ophthalmology
    |June 1, 1976
    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

    Orbital hemorrhage following face-mask barotrauma.

    Undersea & hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, Inc·2001
    Same author

    North Carolina macular dystrophy and central areolar pigment epithelial dystrophy. One family, one disease.

    Archives of ophthalmology (Chicago, Ill. : 1960)·1992
    Same author

    Cell density dependency of vitreous fibrosis induced by monocytes and lymphocytes.

    Current eye research·1988
    Same author

    Nick Gurney: a man for the personnel. Interview by Alison Hyde.

    Health manpower management·1988
    Same author

    Hemorrhagic valsalva retinopathy in Leber's optic neuropathy.

    Annals of ophthalmology·1985
    Same author

    Change in vitreous collagen after penetrating injury.

    Ophthalmic research·1985

    A novel hereditary macular dystrophy, central areolar pigment epithelial dystrophy, was identified in a family. This autosomal-dominant condition causes progressive pigment changes in the macula but maintains normal retinal function.

    Area of Science:

    • Ophthalmology
    • Medical Genetics

    Background:

    • Hereditary macular dystrophies represent a group of genetic disorders affecting central vision.
    • Accurate classification is crucial for understanding disease progression and genetic counseling.

    Observation:

    • A family with a unique macular disorder spanning three generations was investigated.
    • Diagnostic tools included advanced retinal imaging, electrophysiological tests, and color vision assessments.

    Findings:

    • The condition, termed central areolar pigment epithelial dystrophy, is inherited as an autosomal-dominant trait with high penetrance and variable expression.
    • Affected individuals showed progressive depigmentation of the central macula, ranging from subtle pigment loss to excavation.
    • Despite macular changes, most retinal functions remained normal, with only one case of temporary visual acuity reduction due to macular hemorrhage.

    Related Experiment Videos

    Implications:

    • This research describes a novel macular dystrophy, expanding the spectrum of inherited retinal diseases.
    • The unique presentation necessitates further research into its pathogenesis and long-term visual outcomes.
    • Understanding this condition aids in genetic diagnosis and family screening for central areolar pigment epithelial dystrophy.