Wnt-spectrum vitreoretinopathy masquerading as congenital toxoplasmosis

Natalia F. Callaway, Audina Berrocal

Research output: Contribution to journalArticlepeer-review

Abstract

Wnt-spectrum vitreoretinopathies are a group of rare inherited disorders of retinal angiogenesis that include familial exudative vitreoretinopathy/Norrie disease and are most commonly autosomal dominant; however, they can rarely present with other inheritance patterns that are more difficult to diagnose. The authors describe a case of an uncle misdiagnosed as congenital toxoplasmosis for decades and his 2-month-old nephew presenting with bilateral retinal detachments. Genetic analysis revealed an NDP gene mutation in the child and the uncle, as well as heterozygosity of the mother confirming a Wnt-spectrum vitreoretinopathy. This report describes the evaluation, diagnosis, and importance of early laser stabilization of this disorder.

Original languageEnglish (US)
Pages (from-to)446-450
Number of pages5
JournalOphthalmic Surgery Lasers and Imaging Retina
Volume49
Issue number6
DOIs
StatePublished - Jun 1 2018

ASJC Scopus subject areas

  • Surgery
  • Ophthalmology

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