Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation

Kasim Qureshi; Muhammad U. Farooq; Avneet Deol; Christopher Glisson; Philip B. Gorelick

doi:10.1080/01658107.2021.1992447

Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation

Kasim Qureshi, Muhammad U. Farooq^*, Avneet Deol, Christopher Glisson, Philip B. Gorelick

^*Corresponding author for this work

Neurology

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

Abstract

Non-arteritic anterior ischaemic optic neuropathy (NAION) is a common cause of vision loss in adults and is thought to be due to compromised perfusion to the optic nerve head. Patients with NAION in one eye are at risk of recurrence in the fellow eye. We report a case of sequential, bilateral NAION in a patient who was found to have a COL4A2 mutation. COL4A2 encodes a subunit of the collagen 4 protein, the major component of the human basement membranes, and has several known cerebrovascular and ocular associations.

Original language	English (US)
Pages (from-to)	190-193
Number of pages	4
Journal	Neuro-Ophthalmology
Volume	46
Issue number	3
DOIs	https://doi.org/10.1080/01658107.2021.1992447
State	Published - 2022

Keywords

COL4A2
Non-arteritic anterior ischaemic optic neuropathy
collagen vascular disease

ASJC Scopus subject areas

Ophthalmology
Clinical Neurology

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10.1080/01658107.2021.1992447

Cite this

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title = "Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation",

abstract = "Non-arteritic anterior ischaemic optic neuropathy (NAION) is a common cause of vision loss in adults and is thought to be due to compromised perfusion to the optic nerve head. Patients with NAION in one eye are at risk of recurrence in the fellow eye. We report a case of sequential, bilateral NAION in a patient who was found to have a COL4A2 mutation. COL4A2 encodes a subunit of the collagen 4 protein, the major component of the human basement membranes, and has several known cerebrovascular and ocular associations.",

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author = "Kasim Qureshi and Farooq, {Muhammad U.} and Avneet Deol and Christopher Glisson and Gorelick, {Philip B.}",

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AU - Gorelick, Philip B.

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AB - Non-arteritic anterior ischaemic optic neuropathy (NAION) is a common cause of vision loss in adults and is thought to be due to compromised perfusion to the optic nerve head. Patients with NAION in one eye are at risk of recurrence in the fellow eye. We report a case of sequential, bilateral NAION in a patient who was found to have a COL4A2 mutation. COL4A2 encodes a subunit of the collagen 4 protein, the major component of the human basement membranes, and has several known cerebrovascular and ocular associations.

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Bilateral Non-Arteritic Anterior Ischaemic Optic Neuropathy in a Patient with a COL4A2 Mutation

Abstract

Keywords

ASJC Scopus subject areas

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