Norrie Disease

S. Tammy Hsu; Grant Justin; Lejla Vajzovic

doi:10.1007/978-3-031-14506-3_28

Norrie Disease

S. Tammy Hsu, Grant Justin, Lejla Vajzovic^*

^*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Norrie disease disease is a rare X-linked recessive disorder characterized by abnormal retinal development and manifesting as congenital blindness or early childhood blindness in male infants. This chapter discusses the clinical features, genetic testing, differential diagnoses, and management of Norrie disease.

Original language	English
Title of host publication	Pediatric Vitreoretinal Surgery
Publisher	Springer International Publishing
Pages	399-407
Number of pages	9
ISBN (Electronic)	9783031145063
ISBN (Print)	9783031145056
DOIs	https://doi.org/10.1007/978-3-031-14506-3_28
State	Published - 1 Jan 2023
Externally published	Yes

Keywords

NDP
Norrie disease
Retinal detachment

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10.1007/978-3-031-14506-3_28

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title = "Norrie Disease",

abstract = "Norrie disease disease is a rare X-linked recessive disorder characterized by abnormal retinal development and manifesting as congenital blindness or early childhood blindness in male infants. This chapter discusses the clinical features, genetic testing, differential diagnoses, and management of Norrie disease.",

keywords = "NDP, Norrie disease, Retinal detachment",

author = "{Tammy Hsu}, S. and Grant Justin and Lejla Vajzovic",

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AU - Justin, Grant

AU - Vajzovic, Lejla

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PY - 2023/1/1

Y1 - 2023/1/1

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AB - Norrie disease disease is a rare X-linked recessive disorder characterized by abnormal retinal development and manifesting as congenital blindness or early childhood blindness in male infants. This chapter discusses the clinical features, genetic testing, differential diagnoses, and management of Norrie disease.

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KW - Retinal detachment

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ER -

Norrie Disease

Abstract

Keywords

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