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

[Phakomatoses. Ophthalmological and genetic aspects].

J F Cuendet

    Journal De Genetique Humaine
    |October 1, 1975
    PubMed
    Summary

    This study details ophthalmological and genetic aspects of classical and atypical phacomatoses. It establishes genetic prognoses and discusses associations between these rare neurocutaneous syndromes.

    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

    Automation possibilities in ophthalmology [abstract].

    Proceedings of the Royal Society of Medicine·2010
    Same author

    Noëlle Chomé-Bercioux (1898-1990), Jules Gonin's public relations' officer.

    Documenta ophthalmologica. Advances in ophthalmology·1992
    Same author

    [Heredity of granular corneal dystrophy (Groenouw I)].

    Ophtalmologie : organe de la Societe francaise d'ophtalmologie·1989
    Same author

    [Ophthalmological side effects of lithium (author's transl)].

    L'Encephale·1981
    Same author

    [A specialty in full flight, visual aids for the vision impaired].

    Revue medicale de la Suisse romande·1980
    Same author

    [Myasthenia, difficult to diagnose].

    Revue medicale de la Suisse romande·1979

    Area of Science:

    • Ophthalmology
    • Genetics
    • Dermatology

    Context:

    • Phacomatoses are a group of rare neurocutaneous syndromes.
    • This research examines both classical and atypical forms.
    • Understanding genetic links is crucial for diagnosis and management.

    Purpose:

    • To conduct detailed ophthalmological and genetic studies on phacomatoses.
    • To explore twelve syndromes as atypical forms of phacomatoses.
    • To discuss associations and establish genetic prognoses for these conditions.

    Summary:

    • Comprehensive ophthalmological and genetic analyses were performed on four classical phacomatoses.
    • Succinct studies covered twelve additional syndromes considered atypical forms.
    • Associations between different phacomatosis types were discussed, leading to the establishment of genetic prognoses.

    Impact:

    • Provides a deeper understanding of the genetic basis of phacomatoses.
    • Aids in the diagnosis and classification of rare syndromes.
    • Facilitates improved genetic counseling and prognosis for affected families.

    Related Experiment Videos