A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy

Elisabeth P. Aponte, Jose S. Pulido, Jay W. Ellison, Polly A. Quiram, Brian G. Mohney

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

Background : Mutations in the Norrie Disease gene, Norrie Disease Pseudoglioma (NDP) lead to a phenotypically heterogeneous group of retinopathies. We report a novel mutation in the NDP gene identified in a patient whose clinical presentation was suggestive of unilateral persistent fetal vasculature (PFV). Materials and Methods : Ophthalmic examinations, ocular ultrasounds and sequence analysis of the exons of the NDP gene on peripheral blood DNA were performed. Results : A four-month-old boy was referred to our institution for presumed unilateral retinoblastoma. The clinical and ultrasonographic exams were consistent with PFV and retinal detachment of the left eye as well as retinal fibrovascular changes in the right eye. A vitrectomy of the left eye revealed the absence of a retrolenticular stalk and mutation analysis of the NDP gene of the proband and mother demonstrated a novel missense mutation at codon 66, designated as c. 196G > A at the cDNA level and E66K at the protein level. Conclusion : We report a novel mutation in the NDP gene in a patient whose presentation demonstrates the phenotypic heterogeneity of NDP-related disorders.

Original languageEnglish (US)
Pages (from-to)99-102
Number of pages4
JournalOphthalmic Genetics
Volume30
Issue number2
DOIs
StatePublished - Nov 9 2009

Keywords

  • NDP mutation
  • Norrie Disease
  • Persistant fetal vasculative
  • Retinal vasculopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A novel NDP mutation in an infant with unilateral persistent fetal vasculature and retinal vasculopathy'. Together they form a unique fingerprint.

  • Cite this