Neuro-ophthalmic Mechanisms Of Disease

纤维性发育不良（FD）是一种疾病，其中正常骨被纤维骨组织取代。多骨型常累及前颅底，包括蝶骨。视神经穿过蝶骨翼，在CT成像上经常被FD包裹。纤维结构不良包裹视神经的治疗存在争议，因为导致视力丧失的视神经病变是最常报告的神经系统并发症，并且有强烈的预防性神经外科减压的支持者。与牙科研究所的Michael柯林斯博士和Janice Lee博士合作，我前瞻性地检查了69例纤维异常增殖症患者，其中38例纳入本研究。这些患者均通过CT和全面的神经眼科检查进行了详细的视神经管测量。在这些患者中，38例中只有2例神经眼科检查异常，提示视神经病变。1例病例的病因被认为是由于过量生长激素导致的眼眶过度扩大（1例McCune Albright综合征患者并发肢端肥大症）。另一名患者视力正常，视力正常，但一只眼睛出现轻度色觉丧失和视神经苍白。结论是，虽然视神经包绕确实发生，视神经管存在收缩，但大多数患者的眼科检查正常。因此，不建议仅根据影像学检查结果进行预防性视神经减压，因为它们与视力丧失无关。这是检验这个问题的最大规模的研究，并为眼科医生提供了弹药，试图阻止颅面外科医生进行危险的预防性手术。本研究中的患者将继续接受随访，其中一些患者已连续3年每年接受一次随访，检查结果无变化。 先天性眼球震颤（CN）是一种病因不明的眼部运动障碍，在出生或婴儿早期出现，临床上以眼睛的不自主振荡为特征。Richard Hertle博士和我希望确定水平直肌腱切断术在改变CN患者眼球震颤方面的有效性以及他们的视觉功能可能发生的变化。使用标准手术技术，在10例CN患者中，所有4条水平眼肌均被移除并在原始插入处重新连接。分别于术前、术后1、6、24、52周进行眼动记录和临床检查。在10名接受CN研究的成人患者中，9名患者的眼球震颤测量和主观视觉功能得到了显著改善。

Fibrous dysplasia (FD) is a disease where normal bone is replaced with fibro-osseous tissue. In the polyostotic form, the anterior cranial base is frequently involved, including the sphenoid bones. The optic nerve passes through the sphenoid wing and is often found to be encased by FD on CT imaging. Controversy surrounds the management of fibrous dysplasia encased optic nerves, as optic neuropathy resulting in vision loss is the most frequently reported neurological complication, and there are strong proponents of prophylactic neurosurgical decompression. In collaboration with Dr. Michael Collins and Dr. Janice Lee of the Dental Institute, I prospectively examined 69 patients with fibrous dysplasia, of which 38 were included in this study. These patients all had detailed measurements made of their optic canals by CT and comprehensive neuro-ophthalmic exams. Of these patients, only 2 of the 38 had an abnormal neuro-ophthalmic exam suggesting optic neuropathy. The etiology in one case was felt to be due to stretch from an orbit grossly enlarged by excess growth hormone (concurrent acromegaly in a patient with McCune Albright syndrome). The other patient had normal acuity and was aymptomatic but did exhibit some mild color vision loss and optic nerve pallor in one eye. The conclusion is that although optic nerve encasement does occur, and constriction of the optic canal exists, the majority of the patients had normal eye exams. Therefore prophylactic optic nerve decompression is not recommended based on radiographic findings alone since they do not correlate with vision loss. This is the largest study to examine this question and provides ammunition to ophthalmologists trying to fend off cranio-facial surgeons from performing dangerous prophylactic surgery. The patients in this study will continue to be followed and some have been seen yearly for 3 years now with no change in their exams. Congenital nystagmus (CN) is an ocular-motor disorder of unknown etiology that presents at birth or early infancy and is clinically characterized by involuntary oscillations of the eyes. Dr. Richard Hertle and myself wished to determine the effectiveness of horizontal rectus tenotomy in changing the nystagmus of patients with CN and how their visual function may have changed. Using standard surgical techniques, in 10 patients with CN all 4 horizontal eye muscles were removed and reattached at the original insertion. Eye movement recordings and clinical examinations were performed before and at 1, 6, 24 and 52 weeks after surgery. In nine of the ten adult patients studied with CN, tenotomy resulted in significant improvements in a nystagmus measure and subjective visual functions.