Gottwalt S, Bergmann A, Kautza-Lucht M, Roider J B, Treumer F
Universitätsaugenklinik, UKSH Campus Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland.
Ambulanzzentrum des UKSH gGmbH, Fachbereich Humangenetik, Universitätsklinik Kiel, Arnold-Heller-Str. 3, 24105, Kiel, Deutschland.
Ophthalmologe. 2017 Jun;114(6):556-559. doi: 10.1007/s00347-016-0336-3.
We describe a 6-year-old, symptom-free girl presenting with a best corrected visual acuity of 0.6 on both eyes. Clinically we found yellowish subretinal lesions in the macula and around the vessel arcade without signs of vasculitis or abnormal vessels in the angiography. Fundus autofluorescence was marked and SD-OCT showed subretinal hyperreflective masses. With the help of molecular genetics we could make the diagnosis of an autosomal recessive bestrophinopathy (ARB). The natural history over 22 months revealed a slight recovery of the visual acuity as well as a slight reduction of the subretinal deposits.
我们描述了一名6岁无症状女孩,双眼最佳矫正视力均为0.6。临床上,我们在黄斑区和血管弓周围发现了淡黄色的视网膜下病变,血管造影未见血管炎或异常血管迹象。眼底自发荧光明显,SD-OCT显示视网膜下高反射性肿块。借助分子遗传学,我们得以诊断出常染色体隐性遗传性Bestrophin病(ARB)。22个月的自然病程显示视力略有恢复,视网膜下沉积物也略有减少。