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

Inherited eye disease: cause and late effect.

Forbes D C Manson1, Dorothy Trump, Andrew P Read

  • 1Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Oxford Road, Manchester M13 9WH, UK.

Trends in Molecular Medicine
|September 13, 2005
PubMed
Summary

Genetic factors significantly impact late-onset eye disorders. Subtle gene expression changes, rather than complete gene defects, may underlie these conditions, guiding future research.

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

MIR204 n.37C>T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.

Clinical genetics·2023
Same author

Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration.

eLife·2023
Same author

Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.

The Journal of molecular diagnostics : JMD·2022
Same author

Retinal gene therapy in RPE-65 gene mediated inherited retinal dystrophy.

Eye (London, England)·2022
Same author

Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26.

Proceedings of the National Academy of Sciences of the United States of America·2022
Same author

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.

American journal of human genetics·2022

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Epidemiological data highlight the importance of genetic factors in late-onset eye disorders.
  • Current research often assumes developmental and late-onset disorders stem from mutations in the same genes.
  • Distinct mutation types may lead to different disease onset ages.

Purpose of the Study:

  • To explore the principle that different mutations in the same genes can cause both early- and late-onset disorders.
  • To provide arguments and examples supporting this principle for late-onset eye conditions.
  • To guide future investigations into the genetic causes of age-related vision impairment.

Main Methods:

  • Review of existing epidemiological and molecular genetics research.

Related Experiment Videos

  • Analysis of the relationship between mutation severity and disease onset.
  • Case study examples illustrating the principle.

    • Main Results:

    • Limited insights from molecular genetics into late-onset eye disorders despite their genetic basis.
    • A proposed mechanism where subtle gene expression alterations cause late-onset diseases.
    • Severe mutations leading to early-onset disorders versus milder changes causing later onset.

    Conclusions:

    • The principle that different mutations in the same genes cause varied disease onset is a valuable framework.
    • This principle offers a promising avenue for understanding the genetic etiology of late-onset eye disorders.
    • Further research applying this principle could uncover novel genetic targets for vision preservation.