Bilateral Optic Nerve Colobomas in Infant with Tetraploidy

Kinley D. Beck; Clio A. Harper

doi:10.1097/ICB.0000000000000243

Bilateral Optic Nerve Colobomas in Infant with Tetraploidy

Kinley D. Beck, Clio A. Harper

Research output: Contribution to journal › Article › peer-review

Abstract

Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.

Original language	English (US)
Pages (from-to)	252-253
Number of pages	2
Journal	Retinal Cases and Brief Reports
Volume	10
Issue number	3
DOIs	https://doi.org/10.1097/ICB.0000000000000243
State	Published - Jan 1 2016
Externally published	Yes

Keywords

optic nerve coloboma
retinal coloboma
tetraploidy

ASJC Scopus subject areas

Ophthalmology

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10.1097/ICB.0000000000000243

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abstract = "Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.",

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N2 - Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.

AB - Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.

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Bilateral Optic Nerve Colobomas in Infant with Tetraploidy

Abstract

Keywords

ASJC Scopus subject areas

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