Norrie Disease is a very rare x-linked recessive disorder that affects males from birth. The primary feature is congenital blindness. The purpose of this poster is to discuss the clinical features of Norrie Disease, assess the pattern of genetic inheritance with family history and pedigree data, highlight the genetic diagnosis via linkage analysis, deletion/duplication assay, and gene sequencing techniques, and indicate treatment of Norrie Disease. Mutation of the NDP gene, the subsequent disruption in the Norrin protein, the resulting phenotype in individuals affected by this mutation, as well as clinical diagnosis and treatment, are features of this presentation. The genetic component of Norrie Disease is a focus. Up to date clinical diagnostic techniques are outlined.
Darabi, Sourat; Jeyasehar, Annamalar; Lemmon, Sloan; and Eggert, Julie, "Genomic and Clinical Assessment of Norrie Disease/ND" (2014). Health, Education and Human Development Awards. 5.