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 manifestations in mitochondrial DNA abnormalities]

Y Isashiki1, M Nakagawa, H Yamada

  • 1Department of Ophthalmology, Kagoshima University Faculty of Medicine, Japan.

Nippon Ganka Gakkai Zasshi
|January 1, 1994
PubMed
Summary

Mitochondrial diseases, linked to mitochondrial DNA mutations, frequently cause eye problems like vision loss and eyelid drooping. This review details these ophthalmological aspects and genetic links in various mitochondrial disorders.

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

Purification and characterization of glycerate kinase from a serine-producing methylotroph, Hyphomicrobium methylovorum GM2.

European journal of biochemistry·1992
Same author

Costimulation of T cell receptor/CD3-mediated activation of resting human CD4+ T cells by leukocyte function-associated antigen-1 ligand intercellular cell adhesion molecule-1 involves prolonged inositol phospholipid hydrolysis and sustained increase of intracellular Ca2+ levels.

Journal of immunology (Baltimore, Md. : 1950)·1992
Same author

Proliferative assessment of craniopharyngioma and epidermoid by nucleolar organizer region staining.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·1992
Same author

[A case of cardiac sarcoidosis associated with various clinical symptoms and thrombocytopenia].

Nihon Kyobu Shikkan Gakkai zasshi·1992
Same author

An adult case of severe chronic active Epstein-Barr virus infection syndrome.

Internal medicine (Tokyo, Japan)·1992
Same author

Chemical and pharmacological studies on efficacy of Japanese and Chinese herbal medicines.

The Kitasato archives of experimental medicine·1992

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Context:

  • Mitochondrial diseases are multisystem disorders affecting various organs.
  • Mitochondrial DNA (mtDNA) mutations are implicated in the pathogenesis of these conditions.
  • Ocular manifestations are common in mitochondrial diseases.

Purpose:

  • To review the ophthalmological and genetic aspects of mitochondrial diseases.
  • To correlate ocular manifestations with specific mtDNA mutations.
  • To present clinical cases illustrating these associations.

Summary:

  • Reviewed ophthalmological and genetic features of mitochondrial diseases.
  • Confirmed ocular manifestations (e.g., chronic progressive external ophthalmoplegia, optic atrophy) are associated with mtDNA deletion or point mutations.

Related Experiment Videos

  • Described cases of myoclonic epilepsy and ragged-red fibers with mtDNA mutation and optic atrophy, and myotonic dystrophy with CTG repeat expansion and retinochoroidal degeneration.

    • Impact:

    • Highlights the significant role of mitochondrial DNA mutations in causing visual impairment.
    • Provides a comprehensive overview for clinicians diagnosing and managing mitochondrial eye diseases.
    • Underscores the need for integrated genetic and ophthalmological evaluation in suspected cases.