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.
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