Muthugaduru Deepa Jagadish, Sahu Chinmaya, Ali Mohammad Javed, Dalal Ashwin, Jalali Subhadra
Srimati Kannuri Santhamma Centre for Vitreoretinal diseases, L V Prasad Eye Institute, Kallam Anji Reddy campus Banjara Hills, Hyderabad, 500034, India.
Doc Ophthalmol. 2013 Oct;127(2):147-53. doi: 10.1007/s10633-013-9389-7. Epub 2013 Jun 1.
To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS).
Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done.
Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility.
This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.
报告哈利曼-施特雷夫-弗朗索瓦综合征（HSFS）的包括视网膜营养不良在内的表型新特征以及手术挑战。
对一名患有HSFS的女性患者的详细表型进行了评估，包括骨骼变化、全面的眼部检查、详细的眼部生物测量、视网膜电图和黄斑光学相干断层扫描。回顾了睑内翻眼睑手术的手术记录。还进行了基因筛查。
在一名典型的HSFS患者中，发现了独特的眼部生物测量结果以及视网膜电图变化、黄斑皱褶和眼底变化，提示存在一种未报告的视网膜营养不良。由于牙面异常导致气管插管麻醉困难以及皮肤脆弱，手术具有挑战性。
本报告提供了更多信息，尤其是HSFS中的色素性视网膜营养不良、黄斑皱褶和视网膜电图。小眼症具有通常在小眼球症和后部小眼症中报道的重叠性后段表现。罕见的附属器异常的手术困难和结果强调了采取多学科方法进行适当管理的必要性。
