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

Pseudoinflammatory fundus dystrophy: a follow-up study.

A W Eriksson1, E A Suvanto, R R Frants

  • 1Institute of Human Genetics, Medical Faculty, Free University, Amsterdam, The Netherlands.

Clinical Genetics
|July 1, 1990
PubMed
Summary
This summary is machine-generated.

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

Regional differences in birth size: a comparison between the Helsinki Birth Cohort Study and contemporaneous births on the Åland Islands - CORRIGENDUM.

Journal of developmental origins of health and disease·2015
Same author

Regional differences in birth size: a comparison between the Helsinki Birth Cohort Study and contemporaneous births on the Åland Islands.

Journal of developmental origins of health and disease·2015
Same author

The incidence of mini- and micro-satellite repetitive DNA in the canine genome.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2013
Same author

Fish mapping of 250 cosmid and 26 YAC clones to chromosome 4 with special emphasis on the FSHD region at 4q35.

Muscle & nerve. Supplement·2013
Same author

Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35.

Muscle & nerve. Supplement·2013
Same author

The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.

Muscle & nerve. Supplement·2013

This study reinvestigated a family with pseudoinflammatory dystrophy, revealing subretinal hemorrhages and myopia. The findings suggest a likely autosomal recessive inheritance pattern, despite earlier considerations of dominant inheritance.

Area of Science:

  • Ophthalmology
  • Medical Genetics

Background:

  • Pseudoinflammatory dystrophy is a rare fundus dystrophy with characteristic symptoms.
  • Previous studies suggested an autosomal recessive inheritance pattern in affected families.

Purpose of the Study:

  • To reinvestigate a family with pseudoinflammatory dystrophy over 25 years.
  • To clarify the mode of inheritance and genetic basis of the condition.

Main Methods:

  • Longitudinal follow-up of an affected family over 25 years.
  • Detailed genealogical studies and clinical re-evaluation of affected and previously suspected individuals.
  • Analysis of inheritance patterns, considering autosomal recessive, dominant, and pseudodominance.

Main Results:

Related Experiment Videos

  • Identified a new affected subject, daughter of an affected female, and reclassified two collateral cases.
  • Genealogical data revealed common ancestry in an isolated region for most affected subjects' parents.
  • The observed phenotype, including subretinal hemorrhages, progressive myopia, and choroidal atrophy, aligns with recessive inheritance, potentially explained by Lenz's rule.

    • Conclusions:

    • The findings support an autosomal recessive mode of inheritance for this form of pseudoinflammatory dystrophy.
    • The study highlights the importance of long-term follow-up and detailed genealogy in understanding rare genetic disorders.
    • Lenz's rule provides a framework for interpreting phenotypes that can arise from both recessive and dominant genetic mechanisms.