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

Candidate gene screening for posterior polymorphous dystrophy.

Anthony J Aldave1, Vivek S Yellore, Alexandre H Principe

  • 1Cornea Service, The Jules Stein Eye Institute, University of California, Los Angeles, California 90095, USA. aldave@jsei.ucla.edu

Cornea
|February 24, 2005
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

Outcomes of Descemet Stripping Endothelial Keratoplasty in Eyes With Anterior Chamber Intraocular Lenses.

Cornea·2026
Same author

Comment on Spedicati et al. Hidden in the Genome: The First Italian Family with North Carolina Macular Dystrophy Carrying a Novel <i>PRDM13</i> and <i>CCNC</i> Duplication. <i>Biomedicines</i> 2025, <i>13</i>, 1904.

Biomedicines·2026
Same author

Sex differences in congenital hereditary endothelial dystrophy (CHED) and Slc4a11<sup>-/-</sup> mouse model of CHED.

Biology of sex differences·2026
Same author

HTLV, CMV, and EBV: Implications for Ocular Tissue Transplantation: Report of the Eye Bank Association of America Medical Advisory Board Policy and Position Review Subcommittee.

Cornea·2025
Same author

Outcome of Cenegermin in the Treatment of Neurotrophic Keratopathy.

Cornea·2025
Same author

<i>Citrobacter koseri</i> Endophthalmitis Following Intravitreal Fluocinolone Acetonide Implant Injection.

Ophthalmic surgery, lasers & imaging retina·2025

Genetic screening for posterior polymorphous corneal dystrophy (PPCD) did not identify mutations in VSX1, ID1, or BCL2L1 genes. Novel polymorphisms were found, but no causative variants were linked to PPCD in this study.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Posterior polymorphous corneal dystrophy (PPCD) is a rare inherited eye disorder.
  • Previous studies linked PPCD to chromosome 20 and identified mutations in the VSX1 gene.

Purpose of the Study:

  • To screen candidate genes (VSX1, BCL2L1, ID1) for mutations in patients with PPCD.
  • To investigate the role of VSX1, BCL2L1, and ID1 in the pathogenesis of PPCD.

Main Methods:

  • DNA was extracted from 14 PPCD patients (12 families) and controls.
  • PCR amplification and direct sequencing were used to analyze the VSX1, BCL2L1, and ID1 genes.

Main Results:

  • No coding mutations were found in BCL2L1 or ID1.

Related Experiment Videos

  • The previously reported VSX1 Gly160Asp mutation was absent in all probands.
  • The VSX1 Asp144Glu variant was identified in both an affected patient and an unaffected control, suggesting it is a rare polymorphism. Novel synonymous substitutions and UTR variants were identified in VSX1 and ID1.

    • Conclusions:

    • The previously identified VSX1 Gly160Asp mutation is not a common cause of PPCD in this cohort.
    • The VSX1 Asp144Glu variant is likely a rare polymorphism.
    • No disease-causing mutations were identified in the coding regions of VSX1, ID1, or BCL2L1, indicating that other genetic factors likely contribute to PPCD.