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Histopathology and Electron Microscopy of a 16–week–gestation Retina Carrying the Norrie Mutation

¹ Ophthalmology, Massachusetts Eye and Ear Infirmary/Harvard Medical School, Boston, MA
² Ophthalmology, Wilmer Eye Institute/Johns Hopkins University School of Medicine, Baltimore, MS
³ Ophthalmology, Wilmer Eye Institute/Johns Hopkins University School of Medicine, Baltimore, MD

Commercial Relationships: C.M. Andreoli, None; I.E. Maumenee Hussels, None; D. Zhu, None; S. Mukai, None.

Grant Identification: none

Abstract

Background: The Norrie disease gene on Xp11.3 has been isolated, and inactivating mutations in this gene cause Norrie disease. Missense mutations in this gene appear to cause the X–linked form of familial exudative vitreoretinopathy. Histopathology of an 11–week–gestation retina in a carrier of the Norrie mutation has been reported to be normal.

Methods:We identified a family with a boy with Norrie disease. DNA analysis revealed a mutation in exon 3 of the Norrie gene (Glu75Stop). The mother was a carrier of this mutation. She became pregnant with a boy determined to be a carrier by amniocyte analysis, and the pregnanyc was terminated at 16 weeks. The eyes were fixed in formalin and shipped to the Massachusetts Eye and Ear Infirmary. Standard histopathology and electron microscopy was performed.

Results: The retina appeared to be normal by histopathology and electron micrsopy. The eyes were normal by histopathology.

Conclusions:We postulate that mutations in the Norrie gene cause a primary vascular defect resulting in Norrie disease with secondary retinal dysplasia in some cases and familial exudative vitreoretinopathy in others.

Keywords: gene/expression • retinal development

© 2004, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. For permission to reproduce any part of this abstract, contact the ARVO Office at arvo{at}arvo.org.