一名患有双侧常染色体显性遗传性视神经缺损的患者出现进行性视神经杯状凹陷和神经边缘缩小。
Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas.
作者信息
Moore M, Salles D, Jampol L M
机构信息
Department of Ophthalmology, Northwestern University Medical School, Chicago, Illinois, USA.
出版信息
Am J Ophthalmol. 2000 Apr;129(4):517-20. doi: 10.1016/s0002-9394(99)00463-8.
PURPOSE
To document progressive optic nerve cupping and neural rim decrease in a patient with normal intraocular pressures and bilateral autosomal dominant optic nerve colobomas.
METHODS
The ophthalmology records, stereoscopic fundus photographs, and visual fields of a 27-year-old woman with familial (autosomal dominant) optic nerve colobomas were reviewed. The appearance of the optic nerves was documented over a 13-year period (1985 to 1998).
RESULTS
Despite repeatedly normal intraocular pressures, the patient showed progressive optic nerve cupping and neural rim decrease in both eyes. Visual field testing was available over a 5-year period (1993 to 1998) and was abnormal, but no progression was seen.
CONCLUSIONS
This case of progressive cupping and neural rim decrease in a patient with autosomal dominant optic nerve coloboma in both eyes may provide insight into the optic nerve cupping associated with normal tension glaucoma. Careful follow-up of patients with optic disk colobomas or patients is indicated to detect possible optic nerve changes or field loss.
目的
记录一名眼压正常且患有双侧常染色体显性遗传性视神经缺损患者的视神经进行性杯状凹陷和神经边缘萎缩情况。
方法
回顾了一名患有家族性（常染色体显性）视神经缺损的27岁女性的眼科记录、立体眼底照片和视野检查结果。在13年期间（1985年至1998年）记录了视神经的外观。
结果
尽管眼压多次正常，但该患者双眼均出现了进行性视神经杯状凹陷和神经边缘萎缩。在5年期间（1993年至1998年）进行了视野检查，结果异常，但未发现进展。
结论
该双眼患有常染色体显性遗传性视神经缺损患者出现进行性杯状凹陷和神经边缘萎缩的病例，可能为理解与正常眼压性青光眼相关的视神经杯状凹陷提供线索。建议对视盘缺损患者或其他患者进行仔细随访，以检测可能的视神经变化或视野缺损。
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