Study of the Norrie Disease Gene in 2 Patients With Bilateral Persistent Hyperplastic Primary Vitreous | Congenital Defects | JAMA Ophthalmology | JAMA Network
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Case Reports and Small Case Series
March 1998

Study of the Norrie Disease Gene in 2 Patients With Bilateral Persistent Hyperplastic Primary Vitreous

Arch Ophthalmol. 1998;116(3):381-382. doi:

We read with interest the article published in the ARCHIVES by Chynn and colleagues1 who described a full-term male neonate who had bilateral leukocoria, vascularized retrolental membranes, and hemorrhagic retinal detachments. Histopathological examination of 1 eye at the age of 5 weeks revealed elongated ciliary processes, large retrolental vessels, hemorrhagic retinal detachment, and retinal dysplasia—findings indicative of either Norrie disease (ND) or persistent hyperplastic primary vitreous (PHPV). The authors subsequently performed molecular genetic analysis and identified a 1–base-pair deletion in codon 35 of the ND gene, thereby establishing a diagnosis of ND.

As Chynn's study illustrates, the clinical distinction between sporadic ND without systemic manifestations and bilateral PHPV can be difficult and has led to much confusion, with many authors stating that bilateral PHPV occurs in 10% of cases while others believe that bilateral PHPV is extremely rare or may not exist. In addition, it is common in our experience that genetic screening of children with ocular findings consistent with ND or PHPV is negative for mutations in the ND gene. Since mutations in the ND gene have been identified in patients with ND,2,3 we investigated whether mutations in the ND gene were present in 2 unrelated patients with ocular findings consistent with bilateral PHPV to facilitate the identification and classification of these 2 disorders.

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