Early detection of macular dystrophies by Fourier-domain OCT

OCT能显示伴有RP1L1突变的隐匿性黄斑营养不良（OMD）患者的特征性光感受器异常；锥外段尖端（COST）线消失，光感受器内段椭球体（ISe）模糊或中断。这些结果在无主观视觉障碍的患者中也能观察到。在大多数没有RP1L1突变的患者中，OCT特征与上述发现不同。经电生理诊断的OMD患者可能存在RP1L1基因突变以外的多种病因，需要建立新的诊断标准。

The OCT could demonstrate characterisitic photoreceptor abnormalities in patients with the Occult macular dystrophy (OMD) with RP1L1 mutation; disappearance of cone outer segment tip (COST) line, and blurring or disruption of photoreceptor inner segment ellipsoid (ISe). These finding could be also observed in patients without subjective visual disturbance.In most of the patients without the RP1L1 mutation, the OCT features were different from the above findings. Patients with OMD, who were electrophysiologically diagnosed, may harbor various etiologies other than the RP1L1 gene mutation and new diagnostic criteria should be established.