Coombs Reilly A, Chen John J, Salomão Diva R, Tajfirouz Deena A, Eggenberger Eric R, DiNome Marie A, Leavitt Jacqueline A, Pless Misha L, Garrity James A, Mansukhani Sasha A
Departments of Ophthalmology (RAC, SAM), Mayo Clinic Health Systems, Eau Claire, Wisconsin; Departments of Opthalmology (JJC, DS, DAT, JL, JG, SAM) and Neurology (JJC, DAT), Mayo Clinic, Rochester, Minnesota; Department of Laboratory Medicine and Pathology (DS), Mayo Clinic, Rochester, Minnesota; Department of Ophthalmology and Neurology (EE, MP), Mayo Clinic, Jacksonville, Florida; and Department of Ophthalmology and Neurosurgery (MD), Mayo Clinic, Scottsdale, Arizona.
J Neuroophthalmol. 2025 May 15;45(3):267-272. doi: 10.1097/WNO.0000000000002329.
This study describes the clinical presentation, diagnostic yield, and outcomes of patients who have undergone optic nerve or nerve sheath biopsies.
A total of 72 patients undergoing an optic nerve or optic nerve sheath biopsy at Mayo Clinic, Rochester, MN; Jacksonville, FL; or Scottsdale, AZ were included. Patients were identified by searching the pathology database between January 1, 2000, and December 31, 2023. Charts were reviewed to confirm the site of biopsy and review the patient's presentation, clinical course, and indication for biopsy. The main outcome measure was the diagnostic yield.
Of the 72 patients included, 32 underwent optic nerve and 40 optic nerve sheath biopsies. The median age at biopsy was 34 years (range, 1-81 years), and 44 patients (61%) were female. The median preoperative visual acuity was no light perception (NLP) (range, 20/20 to NLP). Prebiopsy optic disc appearance was pallor in 32 (44%), edema in 18 (25%), normal in 11 (15%), and edema with pallor in 5 (7%) patients. Surgical approach was by orbitotomy in 43 (60%), craniotomy in 25 (35%), and trans-nasal in 4 (5%) patients. A definitive diagnosis was achieved on 48 biopsies of 72 patients with an unexplained optic neuropathy, thus giving a diagnostic yield of 67%, higher in optic nerve biopsies (81%) compared with nerve sheath biopsies (55%). The most common diagnoses were meningioma in 23 (32%), glioma in 9 (13%), and sarcoidosis in 6 (8%) patients. For all patients, postbiopsy complications occurred in 11 patients (18%), including strabismus in 5 (7%) patients and acute unexpected vision loss in 4 (6%) patients. The patients in this cohort were followed for a median of 3.3 years, and visual acuity at most recent visit was NLP (range, 20/20 to NLP).
Based on our study, the diagnostic yield of optic nerve and optic nerve sheath biopsies was 67%. The potential diagnostic benefits of an optic nerve and optic nerve sheath biopsies may be offset by the possible permanent postsurgical complications.
本研究描述了接受视神经或神经鞘活检患者的临床表现、诊断率及预后。
纳入在明尼苏达州罗切斯特市、佛罗里达州杰克逊维尔市或亚利桑那州斯科茨代尔市梅奥诊所接受视神经或视神经鞘活检的72例患者。通过检索2000年1月1日至2023年12月31日的病理数据库来确定患者。查阅病历以确认活检部位，并回顾患者的临床表现、临床病程及活检指征。主要结局指标为诊断率。
纳入的72例患者中，32例行视神经活检，40例行视神经鞘活检。活检时的中位年龄为34岁（范围1 - 81岁），44例患者（61%）为女性。术前中位视力为无光感（NLP）（范围20/20至无光感）。活检前视盘外观表现为苍白的有32例（44%），水肿的有18例（25%），正常的有11例（15%），水肿伴苍白的有5例（7%）。手术入路经眶切开术的有43例（60%），开颅手术的有25例（35%），经鼻手术的有4例（5%）。72例不明原因视神经病变患者中，48例活检获得明确诊断，诊断率为67%，视神经活检的诊断率（81%）高于神经鞘活检（55%）。最常见的诊断为脑膜瘤23例（32%）、胶质瘤9例（13%）、结节病6例（8%）。所有患者中，活检后并发症发生在11例患者（18%），包括斜视5例（7%）、急性意外视力丧失4例（6%）。该队列患者的中位随访时间为3.3年，最近一次就诊时的视力为无光感（范围20/20至无光感）。
根据我们的研究，视神经和视神经鞘活检的诊断率为67%。视神经和视神经鞘活检潜在的诊断益处可能会被术后可能出现的永久性并发症所抵消。
