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 renal-retinal dysplasia

V Godel, A Iaina, P Nemet

    Documenta Ophthalmologica. Advances in Ophthalmology
    |October 15, 1980
    PubMed
    Summary

    Hereditary renal-retinal dysplasia links inherited kidney disorders like juvenile nephronophthisis with tapeto-retinal degeneration. This autosomal recessive condition suggests a shared genetic basis, potentially an inborn error of metabolism.

    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

    BODY COMPOSITION CHANGES IN MEN WITH HIV/HCV COINFECTION, HIV MONOINFECTION, AND HCV MONOINFECTION.

    Acta endocrinologica (Bucharest, Romania : 2005)·2023
    Same author

    BONE QUALITY IN A YOUNG COHORT OF HIV-POSITIVE PATIENTS.

    Acta endocrinologica (Bucharest, Romania : 2005)·2020
    Same author

    Particle-in-cell Simulations of the Whistler Heat-flux Instability in Solar Wind Conditions.

    The astrophysical journal. Letters·2020
    Same author

    CENTRAL HYPOTHYROIDISM IN SEVERE SEPSIS.

    Acta endocrinologica (Bucharest, Romania : 2005)·2020
    Same author

    Upper Gastrointestinal Bleeding in Chronic Kidney Disease Patients.

    Current health sciences journal·2018
    Same author

    Is intraoperative touch imprint cytology indicated in the surgical treatment of early breast cancers?

    European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·2017

    Area of Science:

    • Nephrology
    • Ophthalmology
    • Medical Genetics

    Background:

    • Juvenile nephronophthisis and medullary cystic diseases are inherited kidney disorders leading to end-stage renal disease.
    • These conditions, grouped as nephronophthisis-cystic renal medulla complex, often manifest with extrarenal symptoms.
    • Tapeto-retinal degeneration is the most common extrarenal condition associated with this complex.

    Purpose of the Study:

    • To explore the genetic basis and clinical spectrum of hereditary renal-retinal dysplasia.
    • To investigate the relationship between renal and retinal manifestations in this inherited disorder.
    • To discuss the potential pathogenetic mechanisms, including inborn errors of metabolism.

    Main Methods:

    • Literature review and synthesis of existing case studies.
    • Analysis of genetic transmission patterns (autosomal recessive).
    • Review of clinical presentations of renal and retinal anomalies.

    Main Results:

    • Hereditary renal-retinal dysplasia is characterized by the co-occurrence of kidney disease and tapeto-retinal degeneration.
    • The condition follows an autosomal recessive inheritance pattern.
    • Variations in retinal degeneration include Leber's congenital amaurosis, retinitis pigmentosa, and others, suggesting pleiotropism.

    Conclusions:

    • Hereditary renal-retinal dysplasia highlights a significant genetic link between renal and retinal diseases.
    • Pleiotropism may explain the diverse clinical manifestations observed.
    • Further research into inborn errors of metabolism is warranted to elucidate the pathogenesis.

    Related Experiment Videos