Short Report
Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband

https://doi.org/10.1016/j.jaapos.2009.11.012Get rights and content

Norrie disease (ND) is caused by mutations in the ND pseudoglioma (NDP) gene (MIM 300658) located at chromosome Xp11.4-p11.3. ND is characterized by abnormal retinal vascular development and vitreoretinal disorganization presenting at birth. Systemic manifestations include sensorineural deafness, progressive mental disorder, behavioral and psychological problems, growth failure, and seizures. Other vitreoretinopathies that are associated with NDP gene mutations include X-linked familial exudative vitreoretinopathy, Coats disease, persistent fetal vasculature, and retinopathy of prematurity. Phenotypic variability associated with NDP gene mutations has been well documented in affected male patients. However, there are limited data on signs in female carriers, with mild peripheral retinal abnormalities reported in both carrier and noncarrier females of families with NDP gene mutations. Here, we report a family harboring a single base-pair deletion, c.268delC, in the NDP gene causing a severe ND phenotype in the male proband and peripheral retinal vascular abnormalities with dragged maculae similar to those observed in familial exudative vitreoretinopathy in his carrier mother.

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

References (9)

There are more references available in the full text version of this article.

Cited by (0)

Supported by an institutional P30 core grant from the National Institutes of Health, NEI EY002162-31.

View full text