Diagnostic Yield of Investigations in Symmetric Optic Neuropathy.

IF 2 4区 医学 Q3 CLINICAL NEUROLOGY
Journal of Neuro-Ophthalmology Pub Date : 2024-09-01 Epub Date: 2023-08-24 DOI:10.1097/WNO.0000000000001947
Armin Handzic, Jim S Xie, Edward A Margolin
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引用次数: 0

Abstract

Background: Symmetric optic neuropathy (SON) is commonly seen in neuro-ophthalmic practice and is often discovered incidentally. Although multiple investigations might be performed to discover the underlying cause, they are not always indicated. The aim of this study was to report a clinically reasonable and cost-effective approach to investigating patients with SON.

Methods: SON was defined as bilateral optic neuropathy with normal and/or symmetrically decreased central visual acuity, absence of relative afferent pupillary defect, presence of symmetric optic disc pallor, symmetric thinning of peripapillary retinal nerve fiber layer on optical coherence tomography, and absence of other identifiable causes of optic neuropathy. Records of all patients diagnosed with SON seen at a tertiary university-affiliated neuro-ophthalmology practice from 2016 to 2022 were reviewed to identify the yield of various investigations. Clinical data from the initial and last follow-up visit were obtained. Subgroup analysis was performed to ascertain whether diagnostic yield is higher in patients with severe visual loss (central acuity worse than 20/40) compared with those with mild visual loss (acuity 20/40 or better).

Results: One hundred thirty-six patients met inclusion criteria. Testing for OPA1 and OPA2 mutations had the highest diagnostic yield (16.0%), followed by mitochondrial genome sequencing (13.6%), serum vitamin B12 (6.1%), and serum folate (1.6%). MRI brain was performed in 54.4% of patients and had a diagnostic yield of only 5%. Both patients who had abnormal MRI had symptoms of demyelination at presentation. Patients were followed for a mean of 15.0 (SD 21.3) months. The most frequently identified etiologies of SON were Leber hereditary optic neuropathy (8.1%), alcohol/tobacco amblyopia (7.4%), vitamin B12 deficiency (5.9%), and dominant optic atrophy (2.9%). Patients with severe visual impairment were more likely to have a final diagnosis compared with those with milder visual impairment (63.9% vs 12.0%, P < 0.001).

Conclusions: The diagnostic yield of investigating SON in patients with preserved visual function, normal diet, and absence of other neurological symptoms is very low. It is reasonable to observe patients with SON with mild visual impairment, reserving costly investigations for those with the visual acuity worse than 20/40 or progressive course.

对称性视神经病变的检查诊断率
背景:对称性视神经病变(SON)常见于神经眼科临床,通常是偶然发现的。虽然可以进行多种检查以发现潜在病因,但并非总是适用。本研究旨在报告一种临床上合理且经济有效的方法,用于检查 SON 患者:SON 的定义是:双侧视神经病变,中心视力正常和/或对称下降,无相对传入性瞳孔缺损,存在对称性视盘苍白,光学相干断层扫描显示视网膜周围神经纤维层对称变薄,且无其他可确定的视神经病变原因。研究人员回顾了2016年至2022年期间在一所大学附属三级医院神经眼科就诊的所有确诊为SON患者的记录,以确定各种检查的结果。此外,还获取了初次和最后一次随访的临床数据。进行了分组分析,以确定重度视力丧失(中心视力低于20/40)患者的诊断率是否高于轻度视力丧失(视力20/40或更好)患者:结果:136 名患者符合纳入标准。OPA1和OPA2突变检测的诊断率最高(16.0%),其次是线粒体基因组测序(13.6%)、血清维生素B12(6.1%)和血清叶酸(1.6%)。54.4%的患者接受了脑部磁共振成像检查,诊断率仅为 5%。两名核磁共振成像异常的患者在发病时都有脱髓鞘症状。对患者的平均随访时间为 15.0 个月(标准差 21.3 个月)。SON 最常见的病因是 Leber 遗传性视神经病变(8.1%)、酒精/烟草弱视(7.4%)、维生素 B12 缺乏(5.9%)和显性视神经萎缩(2.9%)。与视力受损较轻的患者相比,视力受损严重的患者更有可能获得最终诊断(63.9% vs 12.0%,P < 0.001):结论:对视功能正常、饮食正常且无其他神经系统症状的患者进行SON检查的诊断率非常低。观察视力轻度受损的 SON 患者,为视力低于 20/40 或病程进展的患者保留昂贵的检查是合理的。
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来源期刊
Journal of Neuro-Ophthalmology
Journal of Neuro-Ophthalmology 医学-临床神经学
CiteScore
2.80
自引率
13.80%
发文量
593
审稿时长
6-12 weeks
期刊介绍: The Journal of Neuro-Ophthalmology (JNO) is the official journal of the North American Neuro-Ophthalmology Society (NANOS). It is a quarterly, peer-reviewed journal that publishes original and commissioned articles related to neuro-ophthalmology.
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