Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

Phoebe Lin, Suma P. Shankar, Jacque Duncan, Anne Slavotinek, Edwin M. Stone, Tina Rutar

Research output: Contribution to journalArticle

10 Scopus citations


Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother.{A figure is presented}.

Original languageEnglish (US)
Pages (from-to)93-96
Number of pages4
JournalJournal of AAPOS
Issue number1
StatePublished - Feb 1 2010


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

Cite this