Obayashi Tomohiro, Kato Aki, Suzuki Harumitsu, Ohashi Kei, Yoshida Munenori, Shibata Yu, Ogura Yuichiro, Yasukawa Tsutomu
Department of Ophthalmology and Visual Science, Nagoya City University Graduate School of Medical Sciences, Nagoya, Aichi, Japan.
Suzuki Eye Clinic Midori, Nagoya, Aichi, Japan.
Am J Ophthalmol Case Rep. 2021 Nov 9;24:101230. doi: 10.1016/j.ajoc.2021.101230. eCollection 2021 Dec.
To report family members with familial retinal arteriolar tortuosity (FRAT) identified after sudden visual loss.
A 15-year-old boy had sudden visual loss in his left eye while playing on a horizontal bar. He was referred to Nagoya City University Hospital from an eye clinic. The ophthalmologic examination showed retinal hemorrhage bilaterally. His best-corrected visual acuity (BCVA) was 20/17 in the right eye and 20/67 in the left eye. Bilateral retinal arteriolar tortuosity as well as retinal hemorrhage was seen. Since his mother with 54 years of age also had a history of retinal hemorrhage that improved spontaneously, fundus examination was performed, revealing tortuosity of the retinal arterioles. Consequently, the patient and his mother were diagnosed as FRAT. He was followed without intervention. Retinal hemorrhage gradually decreased and resolved after 3 months. The BCVA of his left eye gradually improved and reached 20/20 after 1 year.
In this case, the family history was very useful for early diagnosis. Immediate and accurate diagnosis allowed the patient to be followed without intervention and achieve subsequent resolution of retinal hemorrhage and improved vision. FRAT should be considered in cases of sub-internal limiting membrane hemorrhages in young patients even in the presence of discrete retinal arteriolar tortuosity.
报告在突然视力丧失后确诊的患有家族性视网膜小动脉迂曲（FRAT）的家庭成员。
一名15岁男孩在玩单杠时左眼突然视力丧失。他从一家眼科诊所转诊至名古屋市立大学医院。眼科检查显示双侧视网膜出血。他的最佳矫正视力（BCVA）右眼为20/17，左眼为20/67。可见双侧视网膜小动脉迂曲以及视网膜出血。由于他54岁的母亲也有过视网膜出血且自行好转的病史，因此对其进行了眼底检查，发现视网膜小动脉迂曲。因此，该患者及其母亲被诊断为FRAT。对他进行了观察，未采取干预措施。3个月后视网膜出血逐渐减少并消退。他左眼的BCVA逐渐改善，1年后达到20/20。
在本病例中，家族史对早期诊断非常有用。及时准确的诊断使患者在未采取干预措施的情况下得到观察，并使视网膜出血随后消退且视力得到改善。即使存在散在的视网膜小动脉迂曲，对于年轻患者发生的内界膜下出血病例，也应考虑FRAT。
