These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A homozygous POC1B variant causes recessive cone-rod dystrophy.
    Author: Peturson AC, Noel NCL, MacDonald IM.
    Journal: Ophthalmic Genet; 2021 Jun; 42(3):349-353. PubMed ID: 33657974.
    Abstract:
    Purpose: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the POC1B gene.Methods: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical coherence tomography, full field electroretinography, semi-kinetic perimetry, and Ishihara plate testing. A DNA sample was collected and sent for diagnostic molecular genetic testing with a cone-rod dystrophy panel.Results: Clinical examination and electroretinography confirmed a clinical diagnosis of cone dystrophy. Molecular genetic testing revealed homozygous variants in POC1B (c.1355 G > A, p.(Arg452Gln)). Follow-up three years later showed progression to a cone-rod dystrophy.Conclusion: Our case describes an ophthalmological phenotype associated with a homozygous POC1B missense variant and provides clinical support for variant classification.
    [Abstract] [Full Text] [Related] [New Search]