Astakhov Yu S, Tultseva S N, Lisochkina A B, Takhtaev Yu V, Astakhov S Yu, Shakhnazarova A A
Pavlov First Saint Petersburg State Medical University, 6-8 L'va Tolstogo St., Saint Petersburg, Russian Federation, 197022.
Ophthalmological Diagnostic Center no. 7 for children and adults, 38 Mohovaya St., Saint Petersburg, Russian Federation, 191028.
Vestn Oftalmol. 2019;135(6):91-99. doi: 10.17116/oftalma201913506191.
The Waardenburg syndrome is a group of rare genetic diseases, which clinical manifestations include neurosensory hearing loss, diminished pigmentation of forelock in the frontal region, iris heterochromia, medial canthus dystopia, and the presence of such changes in first-line relatives. The article presents a clinical case of type I Waardenburg syndrome, which developed de novo in a family. This case is unique in its combination of complete bilateral iris heterochromia and impaired choroidal pigmentation. The choroid did not only have hypopigmentation zones, but also large areas of hyper- and depigmentation. Such choroidal changes in Waardenburg patients has not been described in literature before. The diagnosis was confirmed by OCT of the anterior and posterior segments, angio-OCT, fluorescein angiography, indocyanine green angiography, fundus autofluorescence, and electrophysiological studies. The main ophthalmologic diagnostic criterion of Waardenburg syndrome in the present case, beside iris heterochromia, was the detection of iris thickness changes in hyper- and hypopigmentation areas with completely preserved structural and functional properties of the retina and choroid.
瓦登伯革氏综合征是一组罕见的遗传性疾病，其临床表现包括神经性听力丧失、额部额发色素沉着减少、虹膜异色、内眦移位，以及一级亲属中存在此类变化。本文介绍了一个家族中新生的I型瓦登伯革氏综合征临床病例。该病例的独特之处在于双侧完全性虹膜异色与脉络膜色素沉着受损同时存在。脉络膜不仅有色素减退区，还有大片色素增多和色素脱失区域。此前文献中尚未描述过瓦登伯革氏综合征患者出现这种脉络膜变化。通过眼前段和后段光学相干断层扫描（OCT）、血管OCT、荧光素血管造影、吲哚菁绿血管造影、眼底自发荧光和电生理研究确诊。在本病例中，除虹膜异色外，瓦登伯革氏综合征的主要眼科诊断标准是在色素增多和色素减退区域检测到虹膜厚度变化，而视网膜和脉络膜的结构和功能特性完全保留。
