Eliesersdóttir Torgerð Hentze, Holm Elin, Eckmann-Hansen Christina, Torm Marie Wistrup, Belmouhand Mohamed, Larsen Michael
Department of Ophthalmology, Landssjúkrahúsið, Tórshavn, Faroe Islands.
Department of Ophthalmology, Rigshospitalet, Glostrup, Denmark.
Am J Ophthalmol Case Rep. 2021 Feb 26;22:101050. doi: 10.1016/j.ajoc.2021.101050. eCollection 2021 Jun.
To describe the finding of bright hyperautofluorescent streaks in the peripheral retina in tuberous sclerosis.
A woman with a pathogenic TSC1 mutation and cutaneous manifestations of tuberous sclerosis underwent fundus examination and was found to have a cluster of thin, yellowish streaks in the inferior peripheral fundus of her left eye. The streaks were hyperautofluorescent in blue light and associated with irregular thickening of the photoreceptor-pigment epithelium complex on optical coherence tomography.
The cluster of outer retinal abnormalities in a sector of the peripheral retina in one eye of a TSC1 patient has features in common with the more centrally located and less numerous lesions called achromatic patches. The resemblance of the streak pattern with the pattern of hypoautofluorescence in X-linked retinopathies suggests that the streaks may represent a clone of cells derived from a single somatic mutation in TSC1. The identification of this lesion type expands the scope of conditions that can be diagnosed by fundus imaging.
描述结节性硬化症患者周边视网膜中明亮的高自发荧光条纹的发现。
一名患有致病性TSC1突变且有结节性硬化症皮肤表现的女性接受了眼底检查，发现其左眼周边眼底下方有一簇细小的淡黄色条纹。这些条纹在蓝光下呈高自发荧光，并且在光学相干断层扫描中与光感受器 - 色素上皮复合体的不规则增厚有关。
TSC1患者一只眼周边视网膜一个扇形区域的外层视网膜异常簇与位于更中央且数量较少的叫做消色差斑的病变具有共同特征。条纹模式与X连锁视网膜病变中的低自发荧光模式相似，这表明这些条纹可能代表源自TSC1单个体细胞突变的细胞克隆。这种病变类型的识别扩大了可通过眼底成像诊断的疾病范围。
