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Wei-Chi Wu, MD, PhD; Kimberly Drenser, MD, PhD; Michael Trese, MD; Antonio Capone Jr, MD; Wendy Dailey, BS

Arch Ophthalmol. 2007;125(2):225-230.

Objective  To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP).

Methods  One hundred nine subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in the study. Diagnoses were based on retinal findings at each patient's first examination. Samples of DNA from each patient underwent polymerase chain reaction amplification and direct sequencing of the NDP gene.

Results  Eleven male patients expressing mutations in the NDP gene were identified in the test group, whereas the controls demonstrated wild-type NDP. All patients diagnosed as having Norrie disease had mutations in the NDP gene. Four of the patients with Norrie disease had mutations involving a cysteine residue in the cysteine-knot motif. Four patients diagnosed as having familial exudative vitreoretinopathy were found to have noncysteine mutations. One patient with retinopathy of prematurity had a 14-base deletion in the 5' untranslated region (exon 1), and 1 patient with bilateral persistent fetal vasculature syndrome expressed a noncysteine mutation in the second exon.

Conclusion  Mutations disrupting the cysteine-knot motif corresponded to severe retinal dysgenesis, whereas patients with noncysteine mutations had varying degrees of avascular peripheral retina, extraretinal vasculature, and subretinal exudate.

Clinical Relevance  Patients exhibiting severe retinal dysgenesis should be suspected of carrying a mutation that disrupts the cysteine-knot motif in the NDP gene.

Author Affiliations: Associated Retinal Consultants, William Beaumont Hospital, Royal Oak, Mich (Drs Wu, Drenser, Trese, and Capone, and Ms Dailey), and Department of Ophthalmology, Chang Gung Memorial Hospital, and College of Medicine, Chang Gung University, Tao-Yuan, Taiwan (Dr Wu).

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