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 extreme microphthalmos.

D R Guyer, W R Green

    Ophthalmic Paediatrics and Genetics
    |August 1, 1984
    PubMed
    Summary
    This summary is machine-generated.

    This report details a rare case of bilateral extreme microphthalmos in a newborn with multiple congenital anomalies. The findings suggest a potential genetic or early-pregnancy environmental cause for these severe developmental defects.

    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

    Narrowband gain saturation characteristics in XeF lasers.

    Applied optics·2010
    Same author

    Small signal gain and vibrational relaxation for (13)CO(2).

    Applied optics·2010
    Same author

    Year 2 efficacy results of 2 randomized controlled clinical trials of pegaptanib for neovascular age-related macular degeneration.

    Ophthalmology·2006
    Same author

    Pegaptanib sodium for neovascular age-related macular degeneration: two-year safety results of the two prospective, multicenter, controlled clinical trials.

    Ophthalmology·2006
    Same author

    Pseudohypopyon of orange pigment overlying a stable choroidal nevus.

    American journal of ophthalmology·2001
    Same author

    Endoscopic vitreoretinal surgery for complicated proliferative diabetic retinopathy.

    Retina (Philadelphia, Pa.)·2001
    Same journal

    Ocular growth in infant aphakia. Bilateral versus unilateral congenital cataracts.

    Ophthalmic paediatrics and genetics·1993
    Same journal

    Butterfly-shaped macular dystrophy. Longitudinal case study of two siblings.

    Ophthalmic paediatrics and genetics·1993
    Same journal

    A variant of central areolar choroidal dystrophy.

    Ophthalmic paediatrics and genetics·1993
    Same journal

    North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.

    Ophthalmic paediatrics and genetics·1993
    Same journal

    To lump or to split?

    Ophthalmic paediatrics and genetics·1993
    Same journal

    Ligneous conjunctivitis. Ten years follow-up.

    Ophthalmic paediatrics and genetics·1993
    See all related articles

    Area of Science:

    • Ophthalmology
    • Medical Genetics
    • Developmental Biology

    Background:

    • Congenital ocular anomalies, including microphthalmos and anophthalmos, represent significant challenges in pediatric ophthalmology.
    • Understanding the etiology of severe ocular malformations is crucial for genetic counseling and potential interventions.

    Observation:

    • A full-term female infant presented with bilateral extreme microphthalmos, clinically appearing as anophthalmos, alongside multiple congenital anomalies.
    • Autopsy revealed associated defects: occipital encephalocele, cleft palate, hip abduction issues, syndactyly, and cardiovascular malformations.
    • Ocular autopsy findings included fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia.

    Findings:

    • Despite a normal 46 XX karyotype, the constellation of anomalies suggests a complex etiology.

    Related Experiment Videos

  • The developmental insult likely occurred during the first trimester of pregnancy.
  • A familial history of birth defects in older siblings points towards a potential genetic predisposition or abnormality.

    • Implications:

    • This case highlights the spectrum of severe ocular malformations and associated systemic defects.
    • It underscores the importance of considering both genetic and environmental factors in the etiology of congenital anomalies.
    • Further research into early developmental pathways is needed to elucidate the mechanisms behind such complex presentations.