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

Ocular ochronosis from alkaptonuria.

D M Carlson1, M K Helgeson, J A Hiett

  • 1Heartland Eye Care, Park River, ND 58270.

Journal of the American Optometric Association
|November 1, 1991
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

A corpus-linguistic investigation of dental English.

Journal of dental education·2000
Same author

Expression, regulation, and function of the SPR family of proteins. A review.

Cell biochemistry and biophysics·1999
Same author

A personal reflection. Mothers in crisis.

Journal of pastoral care·1999
Same author

Induction of p34cdc2 in mouse parotid glands upon activation of beta1-adrenergic receptors.

Cellular and molecular biology (Noisy-le-Grand, France)·1998
Same author

Cyclic AMP regulation of mouse proline-rich protein gene expression: isoproterenol induction of AP-1 transcription factors in parotid glands.

Archives of biochemistry and biophysics·1997
Same author

Cell cycle-specific expression of G(0)SPR1 in Chinese hamster ovary cells.

Experimental cell research·1996
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

Alkaptonuria is a rare genetic disorder causing homogentisic acid buildup. This leads to ochronosis, a blue-black pigmentation, and ocular signs like corneal globulation.

Area of Science:

  • Biochemistry
  • Genetics
  • Ophthalmology

Background:

  • Alkaptonuria is an autosomal recessive metabolic disorder.
  • Characterized by deficiency of the homogentisic acid oxidase enzyme.

Observation:

  • Homogentisic acid accumulates in collagenous tissues.
  • Causes blue-black pigmentation known as ochronosis.
  • Ocular manifestations include amber-colored oil globules in Bowman's membrane.

Findings:

  • The deficiency in homogentisic acid oxidase is the primary cause.
  • Tissue deposition leads to characteristic ochronosis.
  • Specific ocular signs are observed in affected individuals.

Implications:

Related Experiment Videos

  • Understanding alkaptonuria aids in diagnosing rare genetic diseases.
  • Ocular findings can be diagnostic indicators.
  • Further research may reveal therapeutic targets for metabolic disorders.