Neuro-ophthalmic Mechanisms Of Disease

纤维异常增殖症(FD)是一种正常骨骼被纤维骨组织取代的疾病。在多发性骨型中，前颅底经常受累，包括蝶骨。视神经穿过蝶骨翼，在CT影像上常可见其被FD包裹。围绕包裹视神经的纤维结构不良的处理存在争议，因为视神经病变导致视力丧失是最常见的神经系统并发症，并且有强烈的支持者预防性神经外科减压术。在与牙科研究所的Michael Collins博士和Janice Lee博士的合作下，我前瞻性地检查了69名纤维异常增殖症患者，其中38人纳入了这项研究。这些患者都通过CT和全面的神经眼科检查对他们的视神经管进行了详细的测量。在这些患者中，38名患者中只有2名进行了异常的神经眼科检查，提示有视神经病变。其中一例的病因被认为是由于过量的生长激素(McCune Albright综合征患者并发肢端肥大症)从眼眶伸展造成的。另一名患者视力正常，视力正常，但有一只眼表现出轻度色觉丧失和视神经苍白。结论：虽然确实存在视神经包裹，视神经管狭窄，但大多数患者的眼科检查正常。因此，预防性视神经减压术不建议仅基于放射学结果，因为它们与视力丧失无关。这是研究这一问题的最大规模的研究，并为眼科医生试图阻止颅面外科医生进行危险的预防性手术提供了弹药。这项研究中的患者将继续接受跟踪，其中一些患者已经连续三年每年接受检查，他们的检查没有变化。 先天性眼球震颤(CN)是一种病因不明的眼球运动障碍，在出生或婴儿早期出现，临床特征是眼睛的不自主摆动。Richard Hertle博士和我希望确定水平直肌肌腱切断术在改变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了怎样的变化。在10例CN患者中，采用标准的手术技术，所有4块水平眼肌均被摘除，并在原附着点重新连接。分别于术前、术后1周、6周、24周、52周进行眼球运动记录和临床检查。在接受CN研究的10名成年患者中，有9名患者的肌腱切断术导致眼球震颤测量和主观视觉功能显著改善。

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.