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

Human albinism. Light and electron microscopy study.

A B Fulton, D M Albert, J L Craft

    Archives of Ophthalmology (Chicago, Ill. : 1960)
    |February 1, 1978
    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

    Effect of carotenoid supplementation on plasma carotenoids, inflammation and visual development in preterm infants.

    Journal of perinatology : official journal of the California Perinatal Association·2011
    Same author

    ISCEV Standard for full-field clinical electroretinography (2008 update).

    Documenta ophthalmologica. Advances in ophthalmology·2008
    Same author

    X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.

    Journal of inherited metabolic disease·2006
    Same author

    Novel frameshift mutations in CRX associated with Leber congenital amaurosis.

    Human mutation·2001
    Same author

    Cycloplegic refractions in healthy children aged 1 through 48 months.

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

    The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.

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

    The economics of the initial preventive physical examination in medicare-reply.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    Same journal

    Modification of silicone oil retention sutures in aphakic eyes with iris loss-reply;.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    Same journal

    December 2011 archives web quiz winner.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    Same journal

    Angle involvement and glaucoma in patients with biopsy-proven iris melanoma: a response-reply.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    Same journal

    About this journal.

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    Same journal

    In memoriam: goodwin m. Breinin, MD (1918-2011).

    Archives of ophthalmology (Chicago, Ill. : 1960)·2013
    See all related articles

    This study examined the eyes of a boy with oculocutaneous albinism and leukemia. Findings reveal an absent fovea and abnormal photoreceptor synapses, impacting visual function in albinism.

    Area of Science:

    • Ophthalmology
    • Genetics
    • Cell Biology

    Background:

    • Oculocutaneous albinism (OCA) is a genetic disorder characterized by reduced melanin production, affecting eyes and skin.
    • Leukemia can infiltrate various tissues, but its ocular involvement in OCA requires specific investigation.
    • This study investigates the ocular morphology in a unique case of co-occurring OCA and leukemia.

    Observation:

    • Microscopic examination of ocular tissues from a 13-year-old male with tyrosinase-negative OCA and leukemia.
    • Absence of leukemic cell infiltration in the fundus was confirmed.
    • Detailed light and electron microscopy of retinal structures were performed.

    Findings:

    • Confirms the absence of the fovea in albinism, a critical area for sharp central vision.

    Related Experiment Videos

  • Identifies abnormal synaptic apparatus in photoreceptor terminals.
  • Retinal pigment epithelial cells show sparse rough endoplasmic reticulum, yet phagocytic function appears intact.

    • Implications:

    • Morphological abnormalities, particularly the absent fovea and synaptic defects, likely contribute to visual impairment in albinism.
    • Understanding these cellular changes is crucial for managing visual function in individuals with albinism.
    • This case highlights the importance of detailed ocular examination in complex genetic and hematologic conditions.