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

Bilateral optic system aplasia with relatively normal eyes.

M Yanoff, L B Rorke, M I Allman

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |January 1, 1978
    PubMed
    Summary

    This study details a rare infant case with severe central nervous system (CNS) malformations and absent optic systems, despite normal-appearing eyes. The findings highlight complex developmental brain abnormalities.

    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

    Angiogenic profile of childhood primitive neuroectodermal brain tumours/medulloblastomas.

    European journal of cancer (Oxford, England : 1990)·2001
    Same author

    Medulloblastoma: clinical and biologic aspects.

    Neuro-oncology·2001
    Same author

    MYC messenger RNA expression predicts survival outcome in childhood primitive neuroectodermal tumor/medulloblastoma.

    Clinical cancer research : an official journal of the American Association for Cancer Research·2001
    Same author

    Prognostic significance of Ki-67 (MIB-1) proliferation index in childhood primitive neuroectodermal tumors of the central nervous system.

    Medical and pediatric oncology·2001
    Same author

    High microvessel density in primitive neuroectodermal brain tumors of childhood.

    Neuropediatrics·2001
    Same author

    Abundance of apoptotic neoplastic cells in diagnostic biopsy samples is not a prognostic factor in childhood primitive neuroectodermal tumors of the central nervous system.

    Journal of pediatric hematology/oncology·2001

    Area of Science:

    • Neuroscience
    • Developmental Biology
    • Ophthalmology

    Background:

    • Investigating rare congenital central nervous system (CNS) malformations.
    • Understanding the etiology of optic system agenesis in infants.

    Observation:

    • A neonate presented with extensive CNS malformations including partial agenesis of the medulla, pons, and cerebellum.
    • Striking maldevelopment of the telencephalon and diencephalon was noted, characterized by lissencephaly and complete arrhinencephaly.
    • The infant exhibited aplasia of the optic system, despite grossly normal-appearing eyes.

    Findings:

    • Confirmed partial agenesis of brainstem and cerebellar structures.
    • Detailed severe telencephalic and diencephalic maldevelopment, including lissencephaly and arrhinencephaly.
    • Documented complete agenesis of the optic system, consistent with developmental origins from the diencephalon.

    Implications:

    • Provides insight into the spectrum of severe neurodevelopmental disorders.
    • Correlates optic system development with broader CNS malformations.
    • Suggests a potential genetic or developmental pathway disruption affecting both brain and optic structures.

    Related Experiment Videos