May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Fzd4 Gene Mutations in Familial Exudative Vitreoretinopathy and Retinopathy of Prematurity Patients
Author Affiliations & Notes
  • W. A. Dailey
    William Beaumont Hosp, Royal Oak, Michigan
    Research Institute,
  • K. A. Drenser
    William Beaumont Hosp, Royal Oak, Michigan
    Associated Retinal Consultants,
  • M. T. Trese
    William Beaumont Hosp, Royal Oak, Michigan
    Associated Retinal Consultants,
  • A. Capone, Jr.
    William Beaumont Hosp, Royal Oak, Michigan
    Associated Retinal Consultants,
  • Footnotes
    Commercial Relationships  W.A. Dailey, None; K.A. Drenser, None; M.T. Trese, None; A. Capone, None.
  • Footnotes
    Support  Margaret Walters Research Grant
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 3111. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      W. A. Dailey, K. A. Drenser, M. T. Trese, A. Capone, Jr.; Fzd4 Gene Mutations in Familial Exudative Vitreoretinopathy and Retinopathy of Prematurity Patients. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3111. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : To identify Fzd4 gene mutations in familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) patients.

Methods: : The CDS of the Fzd4 gene was amplified from genomic DNA of clinically diagnosed FEVR (n=35) and ROP (n=48) patients. The sequences of the PCR products were directly obtained by Dye Terminator Cycle Sequencing.

Results: : Fzd4 mutations were identified in three of the 35 FEVR patients (9%). One patient had a novel heterozygous mutation in exon 2 (C117R). The other two FEVR patients had the same double heterozygous mutation (P33S; P168S). Interestingly, these 2 patients were referred with a diagnosis of ROP and underwent laser ablation at an outside hospital. However, a careful review of their birth history made FEVR more likely. Three of the 48 ROP patients (6%) had the same double heterozygous mutation found in the two FEVR patients. No other Fzd4 mutations were found in the ROP patients.

Conclusions: : The proportion of adFEVR attributed to mutations in the Fzd4 gene, has been previously reported to be between (4% to 20%). ROP has a similar phenotype to FEVR, however the patients have no family history and are premature. It is interesting that the same double heterozygous mutation was found in both FEVR and ROP patients (5/62 =8%). This mutation has been reported previously in an adFEVR patient. It is estimated that as many as 90% of adFEVR patients are asymptomatic. The high percentage of clinically diagnosed patients with the double heterozygous mutation identified in this study, may indicate that patients with this mutation have a higher propensity to develop more severe disease.

Keywords: gene screening • retinopathy of prematurity • retina 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×