Pierpont Mary Ella, Richards Mary, Engel W Keith, Mendelsohn Nancy J, Summers C Gail
Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota.
Am J Med Genet A. 2017 May;173(5):1342-1347. doi: 10.1002/ajmg.a.38110. Epub 2017 Mar 23.
Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their ophthalmologic findings. Both had early symptoms of nystagmus, photophobia, and vision abnormalities. Fundus examination findings of retinal dystrophy were present at age 3 years. Both boys have abnormal electroretinograms with reduced or undetectable rod responses along with reduced cone responses consistent with rod-cone dystrophy. Our observations suggest that early ophthalmic examination and re-evaluations are indicated in children with Costello syndrome.
科斯特洛综合征是一种由RAS/MAPK信号通路原癌基因HRAS的种系突变引起的全身性疾病，其特征包括生长发育迟缓、身材矮小、面部特征粗糙、心脏缺陷（包括肥厚型心肌病）、智力残疾以及易患肿瘤。本文介绍了两名患有科斯特洛综合征且携带HRAS突变（p.Gly13Cys）的无关男孩的眼科检查结果。两人均有眼球震颤、畏光和视力异常等早期症状。3岁时眼底检查发现视网膜营养不良。两名男孩的视网膜电图均异常，视杆细胞反应减弱或无法检测到，同时视锥细胞反应也减弱，符合视杆-视锥细胞营养不良。我们的观察结果表明，科斯特洛综合征患儿应进行早期眼科检查和复查。
