Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Oct 25;46(3):190-193.
doi: 10.1080/01658107.2021.1992447. eCollection 2022.

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

Kasim Qureshi  1 , Muhammad U Farooq  1 , Avneet Deol  2 , Christopher Glisson  1 , Philip B Gorelick  3
Affiliations
Case Reports

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

Kasim Qureshi et al. Neuroophthalmology. .

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.

Keywords: COL4A2; Non-arteritic anterior ischaemic optic neuropathy; collagen vascular disease.

PubMed Disclaimer

Conflict of interest statement

No potential conflict of interest was reported by the authors.

Similar articles

See all similar articles

References

    1. Newman NJ, Scherer R, Langenberg P, et al. The fellow eye in NAION: report from the ischemic optic neuropathy decompression trial follow-up study. Am J Ophthalmol. Sep 1, 2002;134(3):317–328. doi:10.1016/S0002-9394(02)01639-2. - DOI - PubMed
    1. Johnson LN, Arnold AC.. Incidence of nonarteritic and arteritic anterior ischemic optic neuropathy. Population-based study in the state of Missouri and Los Angeles County, California. J Neuroophthalmol. Mar 1, 1994;14(1):38–44. doi:10.1097/00041327-199403000-00011. - DOI - PubMed
    1. Salomon O, Rosenberg N, Steinberg DM, et al. Nonarteritic anterior ischemic optic neuropathy is associated with a specific platelet polymorphism located on the glycoprotein Ibα gene. Ophthalmology. Jan 1, 2004;111(1):184–188. doi:10.1016/j.ophtha.2003.05.006. - DOI - PubMed
    1. Fingert JH, Grassi MA, Janutka JC, et al. Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree. Ophthalmic Genet. Jan 1, 2007;28(1):1–7. doi:10.1080/13816810701199399. - DOI - PubMed
    1. Hayreh SS, Fingert JH, Stone E, Jacobson DM.. Familial non-arteritic anterior ischemic optic neuropathy. Graefes Arch Clin Exp Ophthalmol. Sep, 2008;246(9):1295–1305. doi:10.1007/s00417-008-0853-0. - DOI - PubMed

Publication types

LinkOut - more resources