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

Stickler syndrome.

David A O'Brien1, Anthony J Phillips

  • 1415 Goodwood Road, Westbourne Park, South Australia, 5041, Australia.

Clinical & Experimental Optometry
|December 11, 2002
PubMed
Summary
This summary is machine-generated.

Stickler syndrome, a rare genetic collagen disorder affecting 1 in 10,000 people, causes severe myopia and retinal detachment risk. This overview details its symptoms and optometric care strategies.

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

Intraluminal oxygen mitigates acute mesenteric ischaemia: a systematic review of methods and outcomes in animal studies.

ANZ journal of surgery·2022
Same author

The Gut-Lymph Model Gives New Treatment Strategies for Organ Failure.

JAMA surgery·2022
Same author

Alpha78(EF7)Asn-->Asp is a posttranslational modification in Hb J-Singapore [alpha78(EF7)Asn-->Asp;alpha79(EF8)Ala-->Gly].

Hemoglobin·2007
Same author

Mesenteric lymph: the bridge to future management of critical illness.

JOP : Journal of the pancreas·2007
Same author

The value of autofluorescence as a diagnostic feature of acute promyelocytic leukemia.

Haematologica·2006
Same author

Can true monocular keratoconus occur?

Clinical & experimental optometry·2003
Same journal

An international survey of low vision rehabilitation services.

Clinical & experimental optometry·2026
Same journal

Readiness of the tabletop screen-based perimetry tests for screening and monitoring glaucoma.

Clinical & experimental optometry·2026
Same journal

Validation of the vision quality of life-time survey: comparison with the convergence insufficiency symptom survey.

Clinical & experimental optometry·2026
Same journal

Measuring contrast sensitivity in school children and young adults: a comparison between Pelli-Robson and SpotChecks charts.

Clinical & experimental optometry·2026
Same journal

Three-year retinal and visual outcomes after ultraviolet- and blue light-filtering intraocular lenses.

Clinical & experimental optometry·2026
Same journal

Repeatability of choroidal optical coherence tomography angiography metrics in healthy young adults.

Clinical & experimental optometry·2026
See all related articles

Area of Science:

  • Ophthalmology
  • Genetics
  • Connective Tissue Disorders

Background:

  • Stickler syndrome is a rare genetic disorder affecting collagen.
  • It impacts multiple organ systems, notably the eyes and facial structure.
  • Prevalence is approximately 1 in 10,000 individuals.

Purpose of the Study:

  • To provide a comprehensive overview of Stickler syndrome.
  • To detail the systemic and ocular manifestations.
  • To outline current optometric management approaches.

Main Methods:

  • Literature review of Stickler syndrome.
  • Description of clinical features.
  • Summary of diagnostic criteria and management.

Main Results:

Related Experiment Videos

  • Characterized by high myopia, risk of retinal detachment, and flattened facial features.
  • Genetic defects in collagen genes (COL2A1, COL11A1, COL11A2) are causative.
  • Ocular findings include myopia, cataracts, and vitreous abnormalities.

Conclusions:

  • Early diagnosis and management are crucial for preventing vision loss.
  • Multidisciplinary care is essential for addressing systemic and ocular issues.
  • Ongoing research aims to improve understanding and treatment of Stickler syndrome.