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

Galactose and cataract.

D Stambolian1

  • 1Department of Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania.

Survey of Ophthalmology
|March 1, 1988
PubMed
Summary

Galactosemia, a metabolic disorder, can cause cataracts due to enzyme deficiencies. Early detection and a galactose-free diet may reverse vision impairment in affected individuals.

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

Drusen and RPE atrophy automated quantification by optical coherence tomography in an elderly population.

Eye (London, England)·2015
Same author

Drusen and RPE atrophy automated quantification by optical coherence tomography in an elderly population.

Eye (London, England)·2014
Same author

Genetic susceptibility and mechanisms for refractive error.

Clinical genetics·2013
Same author

Transcriptome analysis and molecular signature of human retinal pigment epithelium.

Human molecular genetics·2010
Same author

A novel approach to search for identity by descent in small samples of patients and controls from the same mendelian breeding unit: a pilot study on myopia.

Human heredity·2001
Same author

Lens changes in hereditary hyperferritinemia-cataract syndrome.

American journal of ophthalmology·2001

Area of Science:

  • Biochemistry
  • Genetics
  • Ophthalmology

Background:

  • Galactosemia results from deficiencies in galactose metabolism enzymes: galactokinase, transferase, or epimerase.
  • Accumulation of galactitol in the lens, caused by any enzyme deficiency, can lead to cataract formation.

Purpose of the Study:

  • To discuss clinical and laboratory findings distinguishing the three galactosemia enzyme deficiency disorders.
  • To review the biochemical genetics of each enzyme.
  • To present evidence linking heterozygous galactokinase deficiency to presenile cataract.

Main Methods:

  • Review of clinical and laboratory findings.
  • Biochemical genetic analysis.
  • Literature review of recent evidence.

Main Results:

  • Specific clinical and laboratory findings differentiate the three enzyme deficiencies.
  • Biochemical genetics of each enzyme are detailed.
  • Evidence suggests a link between heterozygous galactokinase deficiency and presenile cataract.

Conclusions:

  • Ophthalmologists play a key role in early cataract detection in galactosemia.
  • Prompt initiation of a galactose-free diet can potentially clear lenticular opacities.
  • Understanding enzyme deficiencies is crucial for managing galactosemia and associated cataracts.

Related Experiment Videos