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

Russell-Silver dwarfism

M A Kass, R O Howard, J P Silverman

    Annals of Ophthalmology
    |November 1, 1976
    PubMed
    Summary
    This summary is machine-generated.

    Russell-Silver dwarfism presents with intrauterine growth restriction and distinct facial features. This case highlights significant ocular abnormalities, including glaucoma and retinal detachment, managed with specific therapies.

    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

    Topical timolol administration reduces the incidence of glaucomatous damage in ocular hypertensive individuals. A randomized, double-masked, long-term clinical trial (1).

    Journal of glaucoma·2009
    Same author

    Ocular hypertension treatment study: design issues.

    Journal of glaucoma·2009
    Same author

    Chronic uveitis and glaucoma.

    Journal of glaucoma·2009
    Same author

    The ocular hypertension treatment study.

    Journal of glaucoma·2009
    Same author

    Central corneal thickness in the Ocular Hypertension Treatment Study (OHTS).

    Ophthalmology·2001
    Same author

    Clinical factors associated with progression of glaucomatous optic disc damage in treated patients.

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

    Ocular toxicity of systemic chemotherapy with megadoses of carmustine and mitomycin.

    Annals of ophthalmology·1994
    Same journal

    Congenital intrastromal epithelial cyst of the iris.

    Annals of ophthalmology·1994
    Same journal

    Diagnosis and treatment of orbital hemorrhagic lesions.

    Annals of ophthalmology·1994
    Same journal

    Clinical features of toxoplasmic retinochoroiditis in patients with acquired immunodeficiency syndrome.

    Annals of ophthalmology·1994
    Same journal

    The closed chamber slipping suture technique for iris repair.

    Annals of ophthalmology·1994
    Same journal

    The effect of gravity on the amplitude of accommodation.

    Annals of ophthalmology·1994
    See all related articles

    Area of Science:

    • Pediatric Endocrinology
    • Ophthalmology
    • Clinical Genetics

    Background:

    • Russell-Silver dwarfism (RSD) is a rare genetic disorder characterized by intrauterine growth restriction and postnatal growth failure.
    • Patients often exhibit craniofacial disproportion, body asymmetry, and specific physical anomalies.
    • Ocular complications are frequently associated with RSD, impacting visual development and function.

    Observation:

    • This report details a case of Russell-Silver dwarfism with characteristic features: intrauterine dwarfism, craniofacial disproportion, body asymmetry, triangular face, retrognathia, micrognathia, and short, incurved fifth fingers.
    • The patient presented with severe ocular abnormalities, including microphthalmia, persistent tunica vasculosa lentis, chronic angle-closure glaucoma, and retinal degeneration with detachment.

    Findings:

    Related Experiment Videos

    • The described case exemplifies the complex phenotype of Russell-Silver dwarfism, particularly the constellation of congenital anomalies.
    • The ocular findings are extensive, encompassing structural and functional deficits that pose significant challenges to vision preservation.
    • Successful management of chronic angle-closure glaucoma was achieved using miotic therapy subsequent to an iridectomy, demonstrating a viable treatment approach.

    Implications:

    • This case underscores the importance of comprehensive ophthalmologic evaluation in patients diagnosed with Russell-Silver dwarfism.
    • Early diagnosis and management of ocular complications, such as glaucoma, are crucial for preventing irreversible vision loss.
    • Further research into the genetic and molecular underpinnings of ocular manifestations in RSD may lead to improved diagnostic and therapeutic strategies.