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

Bardet-Biedl syndrome.

P A Steiner1

  • 1Naval Hospital, Great Lakes, IL 60088.

Journal of the American Optometric Association
|November 1, 1990
PubMed
Summary
This summary is machine-generated.

Bardet-Biedl syndrome is a rare genetic disorder characterized by tapetoretinal degeneration and obesity. Early diagnosis in children is crucial for managing systemic and ocular complications.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same journal

Visual skills profiles.

Journal of the American Optometric Association·2014
Same journal

Dark adaptation and night blindness.

Journal of the American Optometric Association·2014
Same journal

Scleral tonometry.

Journal of the American Optometric Association·2014
Same journal

Staying in shape: the different roads to fitness for busy optometrists.

Journal of the American Optometric Association·2000
Same journal

Hiring a new optometrist? Be prepared!

Journal of the American Optometric Association·2000
Same journal

Late traumatic intraocular lens extrusion after penetrating keratoplasty.

Journal of the American Optometric Association·2000
See all related articles

Area of Science:

  • Genetics and Ophthalmology

Background:

  • Bardet-Biedl syndrome (BBS) is a rare multisystem genetic disorder.
  • Previously grouped with Laurence-Moon syndrome, BBS is now recognized as a distinct clinical entity.
  • BBS is characterized by a constellation of symptoms including tapetoretinal degeneration, obesity, polydactyly, mental retardation, and hypogonadism.

Observation:

  • This report details a case of a child with an initial diagnosis of Bardet-Biedl syndrome.
  • The case highlights the typical cardinal signs of the condition.

Findings:

  • Bardet-Biedl syndrome presents with diverse systemic manifestations and specific ocular involvement, notably retinitis pigmentosa.
  • Electrophysiologic testing plays a vital role in assessing the extent of retinal dysfunction.

Implications:

Related Experiment Videos

  • Accurate diagnosis of Bardet-Biedl syndrome requires identification of systemic features and ocular findings.
  • Understanding the genetic basis and implementing appropriate management strategies are essential for patient care.
  • This case underscores the importance of a comprehensive approach to diagnosing and managing rare genetic disorders like BBS.