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.