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

Hereditary vitreopathy

M P Snead1

  • 1Vitreo-retinal Service, Addenbrooke's NHS Trust, Cambridge, UK.

Eye (London, England)
|January 1, 1996
PubMed
Summary
This summary is machine-generated.

Inherited vitreo-retinal diseases show significant variation. Mutations in COL11A1, not COL11A2, are likely responsible for the full Stickler syndrome, including ocular features.

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

Stickler syndrome - lessons from a national cohort.

Eye (London, England)·2021
Same author

Montgomery and informed consent during Covid-19: Pneumatic retinopexy versus pars plana vitrectomy or scleral buckling for retinal detachment repair.

The Medico-legal journal·2021
Same author

Stickler syndrome in children: a radiological review.

Clinical radiology·2018
Same author

Rheology and the Eye: blood, tears and other humours.

Eye (London, England)·2018
Same author

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Eye (London, England)·2015
Same author

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Eye (London, England)·2011
Same journal

Traumatic intravitreal egg-shaped hematoma.

Eye (London, England)·2026
Same journal

Rare ocular triad: Goldenhar syndrome with Duane retraction syndrome and optic disc pit.

Eye (London, England)·2026
Same journal

AS-OCT demonstration of anterior capsular delamination in unilateral true exfoliation.

Eye (London, England)·2026
Same journal

Spaceflight-associated neuro-ocular syndrome (SANS): expert consensus on diagnosis and management.

Eye (London, England)·2026
Same journal

Temporal perceptual training enhances visual acuity in adult amblyopia: a single-case study.

Eye (London, England)·2026
Same journal

A window of opportunity: tear cytokine profiles in chronic ocular graft-versus-host disease.

Eye (London, England)·2026
See all related articles

Area of Science:

  • Ophthalmology
  • Genetics
  • Connective Tissue Diseases

Background:

  • Inherited vitreo-retinal diseases exhibit considerable heterogeneity, making quantification challenging due to small cohort sizes and phenotypic variability.
  • Historically, vitreous abnormalities were overshadowed by classifications based on skeletal and morphological differences.
  • Stickler syndrome, the most prevalent hereditary vitreous disorder, has seen recent advancements in understanding its genetic basis.

Purpose of the Study:

  • To investigate the genetic underpinnings of heterogeneity in inherited vitreo-retinal diseases, specifically focusing on Stickler syndrome.
  • To differentiate the roles of COL11A1 and COL11A2 genes in the manifestation of Stickler syndrome, particularly its ocular features.

Main Methods:

  • Subclassification of Stickler syndrome based on vitreo-retinal phenotype.

Related Experiment Videos

  • Genetic linkage analysis of families with Stickler syndrome to specific collagen loci (COL2A1, COL11A1, COL11A2).
  • Review of existing literature on collagen mutations and their association with Stickler syndrome phenotypes.

    • Main Results:

    • Type 1 Stickler syndrome families show linkage to COL2A1, while Type 2 families do not.
    • Mutations in COL11A2 have been identified in a pedigree with systemic Stickler syndrome but without ocular involvement.
    • Mutations in COL11A1 have been implicated in Type 2 Stickler syndrome with ocular abnormalities.

    Conclusions:

    • Collagen XI genes (COL11A1 and COL11A2) are implicated in Stickler syndrome.
    • Only mutations in COL11A1 are hypothesized to cause the complete Stickler syndrome, including the characteristic vitreo-retinal features, due to its presence in the vitreous.
    • Further research is needed to fully elucidate the genotype-phenotype correlations in inherited vitreo-retinal diseases.