A novel pathogenic variant in NDP gene with incomplete penetrance manifests as X-linked familial exudative vitreoretinopathy

Nathan L. Scott, Kimberly D. Tran, Jonathan F. Russell, John W. Hinkle, Linda A. Cernichiaro-Espinosa, Andreas Lauer, Audina Berrocal

Research output: Contribution to journalArticle

Abstract

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary ocular disorder characterized by incomplete or abnormal development of peripheral retinal vasculature. The genes responsible for this disorder are associated with the wingless-related integration site (Wnt) signaling pathway, a critical pathway for the development of normal retinal vasculature. A pathogenic variant in any one of these genes may disrupt retinal vasculogenesis. Furthermore, the type and number of pathogenic variants may influence the severity of disease and clinical course. Here, the authors identify a novel pathogenic variant in the NDP gene, not previously described in the literature.

Original languageEnglish (US)
Pages (from-to)120-124
Number of pages5
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume50
Issue number2
DOIs
StatePublished - Feb 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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