COL4A2突变患者的双侧非动脉性前缺血性视神经病变

IF 0.8 Q4 CLINICAL NEUROLOGY

Neuro-Ophthalmology Pub Date : 2021-10-25 DOI:10.1080/01658107.2021.1992447

Kasim Qureshi, M. Farooq, Avneet Deol, C. Glisson, P. Gorelick

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引用次数: 0

摘要

非动脉性前缺血性视神经病变(NAION)是成人视力丧失的常见原因，被认为是由于视神经头灌注受损。单眼NAION患者有另一只眼复发的风险。我们报告一个病例顺序，双侧NAION在患者谁被发现有COL4A2突变。COL4A2编码胶原蛋白的一个亚基，胶原蛋白是人体基底膜的主要成分，并与几种已知的脑血管和眼部相关。

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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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来源期刊

Neuro-Ophthalmology 医学-临床神经学

CiteScore

1.80

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Neuro-Ophthalmology publishes original papers on diagnostic methods in neuro-ophthalmology such as perimetry, neuro-imaging and electro-physiology; on the visual system such as the retina, ocular motor system and the pupil; on neuro-ophthalmic aspects of the orbit; and on related fields such as migraine and ocular manifestations of neurological diseases.