All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F22%3A10442553" target="_blank" >RIV/00216208:11110/22:10442553 - isvavai.cz</a>

  • Alternative codes found

    RIV/00064165:_____/22:10442553 RIV/68407700:21230/22:00356302

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=fEBZPW52dk" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=fEBZPW52dk</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1111/aos.15114" target="_blank" >10.1111/aos.15114</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy

  • Original language description

    Purpose: Posterior corneal vesicles (PCVs) have clinical features that are similar to posterior polymorphous corneal dystrophy (PPCD). To help determine whether there is a shared genetic basis, we screened 38 individuals with PCVs for changes in the three genes identified as causative for PPCD. Methods: We prospectively recruited patients for this study. We examined all individuals clinically, with their first-degree relatives when available. We used a combination of Sanger and exome sequencing to screen regulatory regions of OVOL2 and GRHL2, and the entire ZEB1 coding sequence. Results: The median age at examination was 37.5 years (range 4.7-84.0 years), 20 (53%) were male and in 19 (50%) the PCVs were unilateral. Most individuals were discharged to optometric review, but five had follow-up for a median of 12 years (range 5-13 years) with no evidence of progression. In cases with unilateral PCVs, there was statistically significant evidence that the change in the affected eye was associated with a lower endothelial cell density (p = 0.0003), greater central corneal thickness (p = 0.0277) and a steeper mean keratometry (p = 0.0034), but not with a higher keratometric astigmatism or a reduced LogMAR visual acuity. First-degree relatives of 13 individuals were available for examination, and in 3 (23%), PCVs were identified. No possibly pathogenic variants were identified in the PPCD-associated genes screened. Conclusion: We found no evidence that PCVs share the same genetic background as PPCD. In contrast to PPCD, we confirm that PCVs is a mild, non-progressive condition with no requirement for long-term review. However, subsequent cataract surgery can lead to corneal oedema.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30101 - Human genetics

Result continuities

  • Project

    <a href="/en/project/GA20-19278S" target="_blank" >GA20-19278S: Corneal endothelial dystrophies - genetic causes and molecular mechanisms</a><br>

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Others

  • Publication year

    2022

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Acta Ophthalmologica

  • ISSN

    1755-375X

  • e-ISSN

    1755-3768

  • Volume of the periodical

    100

  • Issue of the periodical within the volume

    7

  • Country of publishing house

    DK - DENMARK

  • Number of pages

    5

  • Pages from-to

    "e1426"-"e1430"

  • UT code for WoS article

    000756591000001

  • EID of the result in the Scopus database

    2-s2.0-85124735307