Early detection of macular dystrophies by Fourier-domain OCT

OCT可以显示RP 1 L1突变的隐匿性黄斑营养不良（OMD）患者的特征性感光细胞异常;锥体外节尖端（COST）线消失，感光细胞内节椭圆体（伊势）模糊或破坏。无RP 1 L1基因突变的患者OCT表现与上述结果不同。经电生理学诊断的OMD患者可能存在RP 1 L1基因突变以外的多种病因，应建立新的诊断标准。

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.