Al-Khayer Kholoud, Hagstrom Stephanie, Pauer Gayle, Zegarra Hernando, Sears Jonathan, Traboulsi Elias I
Center for Genetic Eye Diseases, Cole Eye Institute, Cleaveland Clinic Foundation, Ohio 44195, USA.
Am J Ophthalmol. 2004 Feb;137(2):375-7. doi: 10.1016/S0002-9394(03)00913-9.
To present long-term follow-up on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene.
Case report.
RPE65 mutation screening and search for sequence changes using Single Strand Conformation Polymorphism and direct DNA sequencing. Ophthalmic examination and electrophysiologic testing.
A 35-year-old female carried two RPE65 mutations: a maternal 961A>T (K303X) nonsense mutation and a paternal 1346A>G (Y431C) missense mutation. She had severe visual deficits and an absence of rod and cone Electroretinogram responses. Visual acuity of 20/60 both eyes and normal color recognition during early childhood declined to 2/200 in the right eye and 1/200 in the left eye at the age of 35.
The RPE65 mutations K303X and Y431C in compound heterozygous form cause progressive visual compromise that starts in childhood and advances to severe visual loss by the fourth decade of life.
报告一名患有莱伯先天性黑蒙（LCA）且RPE65基因存在新型复合杂合突变的北美患者的长期随访情况。
病例报告。
采用单链构象多态性和直接DNA测序进行RPE65突变筛查并寻找序列变化。进行眼科检查和电生理测试。
一名35岁女性携带两个RPE65突变：一个是来自母亲的961A>T（K303X）无义突变，另一个是来自父亲的1346A>G（Y431C）错义突变。她有严重的视力缺陷，且视网膜电图杆体和锥体反应均缺失。幼儿期双眼视力为20/60且颜色识别正常，到35岁时，右眼视力降至2/200，左眼视力降至1/200。
复合杂合形式的RPE65突变K303X和Y431C导致进行性视力损害，始于儿童期，并在生命的第四个十年发展为严重视力丧失。
Zotero 插件