Goyal Manisha, Kapoor Seema, Ikegawa Shiro, Nishimura Gen
Rare Disease Clinic, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India.
Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India.
Case Rep Pediatr. 2016;2016:3198597. doi: 10.1155/2016/3198597. Epub 2016 Nov 28.
Stickler syndrome or hereditary progressive arthroophthalmopathy is a heterogeneous group of collagen tissue disorders, characterized by orofacial features, ophthalmological features (high myopia, vitreoretinal degeneration, retinal detachment, and presenile cataracts), hearing impairment, mild spondyloepiphyseal dysplasia, and/or early onset arthritis. Stickler syndrome type I (ocular form) is caused by mutation in the gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C>T mutation in gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.
斯蒂克勒综合征或遗传性进行性关节眼病是一组异质性的胶原组织疾病，其特征为口面部特征、眼科特征（高度近视、玻璃体视网膜变性、视网膜脱离和早发性白内障）、听力障碍、轻度脊椎骨骺发育不良和/或早发性关节炎。I型斯蒂克勒综合征（眼型）由该基因的突变引起。上睑下垂和葡萄膜炎是该综合征相对罕见的眼科表现。我们报告一名印度男孩，其该基因存在2710C>T突变，表现出身材矮小、上睑下垂和葡萄膜炎，诊断为斯蒂克勒综合征。
