Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia.
Ophthalmology. 2011 May;118(5):964-70. doi: 10.1016/j.ophtha.2010.09.002. Epub 2010 Dec 3.
Optic nerve morphology is affected by genetic and acquired disease. Glaucoma is the most common optic neuropathy; autosomal-dominant optic atrophy (ADOA) and Leber's hereditary optic neuropathy (LHON) are the most prevalent hereditary optic neuropathies. These 3 entities can exhibit similar topographical changes at the optic nerve head. Both ADOA and LHON have been reported to be misdiagnosed as glaucoma. Our aim was to determine whether glaucoma subspecialists and neuro-ophthalmologists can distinguish these diagnoses on optic disc assessment alone.
Observational study.
Twenty-three optic nerve experts.
We randomized and masked 60 high-resolution stereoscopic optic disc photographs (15 ADOA images, 15 LHON, 15 glaucoma, and 15 normal controls). Experts were asked to assess the discs on 12 conventional topographic features and assign a presumptive diagnosis. Intra- and interanalysis was performed using the index of qualitative variation and absolute deviation.
Can glaucoma specialists and neuro-ophthalmologists distinguish among the disease entities by optic nerve head phenotype.
The correct diagnosis was identified in 85%, 75%, 27%, and 16% of the normal, glaucoma, ADOA, and LHON disc groups, respectively. The proportion of correct diagnoses within the ADOA and LHON groups was significantly lower than both normal and glaucomatous (P<0.001). Where glaucoma was chosen as the most likely diagnosis, 61% were glaucomatous, 34% were pathologic but nonglaucomatous discs, and 5% were normal. There was greater agreement for individual parameters assessed within the normal disc set when compared with pathologic discs (P<0.05). The only parameter to have a significantly greater agreement within the glaucomatous disc set when compared with ADOA or LHON disc sets was pallor, whereby experts agreed on is absence in the glaucomatous discs but were not in agreement on its presence or its absence in the ADOA and LHON discs (P<0.01).
Optic neuropathies can result in similar topographic changes at the optic disc, particularly in late-stage disease, making it difficult to differentiate ADOA and LHON from glaucoma based on disc assessment alone. Other clinical parameters such as acuity, color vision, history of visual loss, and family history are required to make an accurate diagnosis.
视神经形态受遗传和获得性疾病的影响。青光眼是最常见的视神经病变；常染色体显性视神经萎缩（ADOA）和 Leber 遗传性视神经病变（LHON）是最常见的遗传性视神经病变。这 3 种疾病在视神经头部都可能表现出相似的形态学改变。ADOA 和 LHON 都曾被误诊为青光眼。我们的目的是确定青光眼专家和神经眼科医生是否仅通过视盘评估就能区分这些诊断。
观察性研究。
23 名视神经专家。
我们随机和屏蔽了 60 张高分辨率的立体视神经盘照片（15 张 ADOA 图像，15 张 LHON，15 张青光眼，15 张正常对照组）。专家们被要求评估 12 个常规的形态特征，并做出推定诊断。使用定性变化指数和绝对偏差进行了内部和外部分析。
青光眼专家和神经眼科医生能否通过视神经头部表型来区分这些疾病实体。
正常、青光眼、ADOA 和 LHON 视盘组的正确诊断率分别为 85%、75%、27%和 16%。ADOA 和 LHON 组的正确诊断比例明显低于正常和青光眼组（P<0.001）。当选择青光眼作为最可能的诊断时，61%是青光眼，34%是病理性但非青光眼性视盘，5%是正常的。与病理性视盘相比，正常视盘组中评估的个别参数的一致性更高（P<0.05）。与 ADOA 或 LHON 视盘组相比，在青光眼视盘组中，苍白是唯一具有更高一致性的参数，专家们一致认为在青光眼视盘中不存在苍白，但在 ADOA 和 LHON 视盘中是否存在苍白则存在分歧（P<0.01）。
视神经病变可导致视盘出现相似的形态学改变，尤其是在晚期疾病中，仅通过视盘评估很难区分 ADOA 和 LHON 与青光眼。需要其他临床参数，如视力、色觉、视力丧失史和家族史，以做出准确的诊断。
