Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

Sophia El Hamichi; Dhariana Acón; Timothy G. Murray; Audina M. Berrocal

doi:10.1159/000509848

Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

Sophia El Hamichi, Dhariana Acón, Timothy G. Murray, Audina M. Berrocal

Ophthalmology

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

Abstract

Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

Original language	English (US)
Pages (from-to)	612-619
Number of pages	8
Journal	Case Reports in Ophthalmology
Volume	11
Issue number	3
DOIs	https://doi.org/10.1159/000509848
State	Published - Sep 2020

Keywords

Coloboma
Optic disc coloboma
Optic nerve coloboma
Optical coherence tomography angiography

ASJC Scopus subject areas

Ophthalmology

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10.1159/000509848

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title = "Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases",

abstract = "Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.",

keywords = "Coloboma, Optic disc coloboma, Optic nerve coloboma, Optical coherence tomography angiography",

author = "{El Hamichi}, Sophia and Dhariana Ac{\'o}n and Murray, {Timothy G.} and Berrocal, {Audina M.}",

note = "Publisher Copyright: {\textcopyright} 2020 The Author(s). Published by S. Karger AG, Basel.",

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language = "English (US)",

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AU - El Hamichi, Sophia

AU - Acón, Dhariana

AU - Murray, Timothy G.

AU - Berrocal, Audina M.

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Y1 - 2020/9

N2 - Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

AB - Optic disc coloboma (ODC) is a rare congenital anomaly of the optic nerve. Optical coherence tomography (OCT) helps to monitor the complications when there is associated retinoschisis, retinal detachment, or peripapillary neovascularization, while being minimally invasive. OCT angiography could help to better understand this entity from a vascular perspective. We report multimodal imaging of 3 children with large ODC associated with cat eye syndrome, CHARGE syndrome (coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear abnormalities), and branchio-oculo-facial syndrome.

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KW - Optic disc coloboma

KW - Optic nerve coloboma

KW - Optical coherence tomography angiography

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Multimodal Imaging of Large Optic Disc Coloboma: A Report of Three Cases

Abstract

Keywords

ASJC Scopus subject areas

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