Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportRetinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband
Section snippets
Case Report
A 4-month-old Vietnamese boy presented to the pediatric ophthalmology clinic with failure to track and bilateral leukocoria. He was born to a 35-year-old mother at term with an uneventful prenatal and postnatal course. Family history was significant for a 32-year-old maternal uncle who was blind since childhood (e-Supplement 1, available at jaapos.org). The patient exhibited no response to light and conjugate horizontal nystagmus. He had bilateral retrolental masses. Examination under
Discussion
We report a family with a new NDP gene mutation causing a ND phenotype characterized by gross vitreoretinal disorganization and severe anterior segment dysplasia in the male proband. The subject's mother, confirmed to be a carrier by molecular testing, had avascular peripheral retinas with vascular tufts, straightening of the retinal blood vessels, and temporally dragged maculae similar to a familial exudative vitreoretinopathy phenotype.
NDP-related vitreoretinopathies include a spectrum of
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Cited by (0)
Supported by an institutional P30 core grant from the National Institutes of Health, NEI EY002162-31.