Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

Case report: A case of Norrie disease due to deletion of the entire coding region of NDP gene

Purpose: Norrie disease is a rare X-linked recessive vitreoretinopathy. Variants of the NDP gene are associated with this condition. This case reports aims to demonstrate the variations of clinical presentations and exam findings of this disease. Observations: A retrospective chart review of the pat...

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Bibliographic Details
Main Authors: Yujia Zhou, MD, Michael J. Shapiro, MD, Barbara K. Burton, MD, Marilyn B. Mets, MD, Sudhi P. Kurup, MD
Format: Article
Language:English
Published: Elsevier 2021-09-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
Norrie disease
NDP
Norrin
Leukocoria
Retinal detachment
Online Access:http://www.sciencedirect.com/science/article/pii/S2451993621001602

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http://www.sciencedirect.com/science/article/pii/S2451993621001602

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