Janáky Márta, Hári Kovács András, Jánossy Ágnes, Török Dóra, Ivanyi Béla, Braunitzer Gábor, Benedek György
Department of Ophthalmology, University of Szeged, Koranyi fasor 4-8, H-6701 Szeged, Hungary.
Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Vision (Basel). 2020 Jan 2;4(1):5. doi: 10.3390/vision4010005.
This is a case history of a 23-year-old woman suffering from incontinentia pigmenti (IP). The patient's vision in the left eye started to deteriorate due to cataract progression at the age of 22, and by the age of 23, it dropped from 0.9 to 0.04. Ultrasound examination confirmed tractional vitreoretinal membranes. Vitrectomy was performed, therefore, on her left eye. The histological evaluation of vitreous membrane revealed a complex immunophenotype (positivity for glial fibrillary acidic protein (GFAP), vimentin, S-100, anti-pan cytokeratin antibody (AE/AE3), and smooth muscle-specific actin (SMA) to various extents). The right eye remained unsymptomatic throughout this course. Besides being the first to analyze the tractional vitreoretinal membrane in IP with immunohistochemical methods, this case study points out that extreme cases of asymmetric side involvement in IP do exist, even to the point of one eye being completely unsymptomatic.
这是一名患有色素失禁症（IP）的23岁女性的病例史。患者左眼视力在22岁时因白内障进展开始恶化，到23岁时，视力从0.9降至0.04。超声检查证实存在牵拉性玻璃体视网膜膜。因此，对其左眼进行了玻璃体切除术。玻璃体膜的组织学评估显示出复杂的免疫表型（胶质纤维酸性蛋白（GFAP）、波形蛋白、S-100、抗泛细胞角蛋白抗体（AE/AE3）和平滑肌特异性肌动蛋白（SMA）在不同程度上呈阳性）。在此病程中，右眼一直无症状。该病例研究不仅首次用免疫组织化学方法分析了色素失禁症中的牵拉性玻璃体视网膜膜，还指出色素失禁症确实存在不对称性单侧受累的极端情况，甚至到一只眼睛完全无症状的程度。
