Department of Ophthalmology (Chairman Prof. Dr. med. Ch. Valmaggia), Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
Department of Ophthalmology (Chairman Prof. Dr. med. H. Scholl), University of Basel, Basel, Switzerland.
Klin Monbl Augenheilkd. 2021 Apr;238(4):410-413. doi: 10.1055/a-1386-5788. Epub 2021 Apr 14.
Describing optic disc appearance in familial retinal arteriolar tortuosity (fRAT) using multimodal imaging and raising awareness of peripapillary arterial changes due to this disorder.
A cross-sectional study was performed in four consecutive patients of two non-related families. Detailed ophthalmological examination was performed and supported by medical and family history and multimodal imaging.
In all subjects, increased tortuosity of second- and third-order retinal arteries in superior and deeper vascular plexus was documented. Furthermore, tortuosity in the peripapillary circle of Zinn-Haller was found. In addition, retinal vessel oximetry confirmed tortuosity only of the arterial vessels.
The present data suggests that a blurry bordered, hyperemic optic disc in the presence of abnormally tortuous arteriolar vessels and asymptomatically or oligosymptomatically spontaneously resolved hemorrhages could be associated with a fRAT. This finding could be linked to peripapillary arterial vessel tortuosity.
使用多模态成像描述家族性视网膜小动脉迂曲（fRAT）的视盘外观，并提高对该疾病引起的视盘周围动脉变化的认识。
对两个无血缘关系的家族中的连续 4 名患者进行了一项横断面研究。进行了详细的眼科检查，并结合了病史和家族史以及多模态成像进行支持。
在所有受试者中，均记录到第二级和第三级视网膜动脉在上方和更深的血管丛中的迂曲增加。此外，还发现了 Zinn-Haller 视盘周围环的迂曲。此外，视网膜血管血氧测定仅证实了动脉血管的迂曲。
目前的数据表明，在存在异常迂曲的小动脉血管和无症状或仅有少量症状的自发性出血的情况下，视盘边界模糊、充血可能与 fRAT 有关。这一发现可能与视盘周围动脉血管迂曲有关。
