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

Molecular diagnostics for retinitis pigmentosa.

K Y Yeung1, L Baum, W M Chan

  • 1Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.

Clinica Chimica Acta; International Journal of Clinical Chemistry
|November 6, 2001
PubMed
Summary

Retinitis pigmentosa (RP) affects over a million people globally. Developing a comprehensive genetic test is becoming feasible due to ongoing research into RP genes and new mutation detection methods.

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

Genetic markers for primary open-angle glaucoma using next-generation sequencing: abridged secondary publication.

Hong Kong medical journal = Xianggang yi xue za zhi·2025
Same author

Assessment of SARS-CoV-2 Immunity in Convalescent Children and Adolescents.

Frontiers in immunology·2022
Same author

Acute poisoning by dexmedetomidine-containing chewing gum in a child.

Pathology·2021
Same author

Nanoparticles to identify Alzheimer disease by magnetic resonance imaging: abridged secondary publication.

Hong Kong medical journal = Xianggang yi xue za zhi·2020
Same author

Targeted drug discovery for Alzheimer disease: abridged secondary publication.

Hong Kong medical journal = Xianggang yi xue za zhi·2020
Same author

Association of Optical Coherence Tomography Angiography Metrics With Detection of Impaired Macular Microvasculature and Decreased Vision in Amblyopic Eyes: The Hong Kong Children Eye Study.

JAMA ophthalmology·2020

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Retinitis pigmentosa (RP) is a common inherited form of blindness affecting over 1 million people worldwide.
  • Numerous gene mutations can cause RP, with the most frequent (Pro347Leu in rhodopsin) present in only about 1% of patients.
  • This low prevalence of common mutations makes targeted diagnostic tests impractical.

Purpose of the Study:

  • To explore the feasibility of a comprehensive molecular diagnostic test for retinitis pigmentosa (RP).
  • To address the limitations of current diagnostic approaches for RP.

Main Methods:

  • Reviewing ongoing discoveries in RP gene research.
  • Considering mutation detection methods like conformation-sensitive gel electrophoresis (CSGE) and sequencing.

Related Experiment Videos

  • Evaluating the potential for broad genetic screening.

    • Main Results:

    • The continuous identification of RP genes supports the development of a comprehensive diagnostic test.
    • Mutation detection techniques are advancing, enabling broader genetic screening.

    Conclusions:

    • A molecular diagnostic test screening all known RP genes is becoming feasible.
    • Advancements in genetic knowledge and treatments like gene therapy necessitate such comprehensive tests for RP diagnosis and management.