Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene
Clinical Phenotype in Ten Unrelated Japanese Patients with Mutations in the EYS Gene
复制标题
DOI：
10.3109/13816810.2013.768673
复制
发表时间：
2014-03-01
影响因子：
1.2
通讯作者：
Hotta, Yoshihiro
中科院分区：
文献类型：
--
作者：
Suto, Kimiko;Hosono, Katsuhiro;Hotta, Yoshihiro
背景资料：为了表征与先前报道的闭眼同源物（EYS）基因突变（包括截短突变）相关的临床表型，c. 4957_4958insA，这是一个主要的致病突变视网膜色素变性（RP）在日本。材料和方法：研究人群包括10个无关的RP受试者非常可能致病突变的两个等位基因，其中4人与纯合子c。4957_4958insA突变。表型分析是基于眼科检查，戈德曼视野检查，和数字眼底photography.Results：研究人群包括6名男性和4名女性，年龄34-74岁。首次就诊时的平均年龄为31岁（范围14-44岁），患者通常以夜盲症为初始症状，随后出现视野进行性收缩。9/20只患眼出现近视。对于大多数患者来说，中心视力相对较好地保留到30岁，之后在接下来的20年中迅速恶化。c基因纯合子患者的视力。4957_4958insA突变是均匀的。视野对称性收缩，收缩的程度似乎与年龄比视力更相关。眼底显示骨针，随着年龄的增长，密度增加，衰减视网膜vessel.Conclusions：虽然需要更多的患者EYS基因突变的额外研究，它似乎是患者共享一个相对统一的表型与接近正常的中央视觉功能，直到他们的二十几岁。c. 4957_4958insA突变显示了一致的视力变化过程。
Background: To characterize the clinical phenotypes associated with previously-reported mutations of the eyes shut homolog (EYS) gene, including a truncating mutation, c. 4957_4958insA, which is a major causative mutation for retinitis pigmentosa (RP) in Japan.Materials and Methods: The study population comprised ten unrelated RP subjects with very likely pathogenic mutations in both alleles, four of them with a homozygous c. 4957_4958insA mutation. The phenotype analysis was based on ophthalmic examination, Goldmann perimetry, and digital fundus photography.Results: The study population included six men and four women aged 34-74 years. The average age at first visit was 31 years (range, 14-44 years), and the patients typically presented with night blindness as the initial symptom and subsequently developed progressive constriction of the visual field. Myopia was noted in 9/20 affected eyes. For most patients, central visual acuity was preserved relatively well up to their thirties, after which it deteriorated rapidly over the next two decades. The visual acuity of patients homozygous for the c. 4957_4958insA mutation was uniform. Visual fields were constricted symmetrically, and the extent of constriction seemed to be better correlated with age than visual acuity. The fundus displayed bone spicules, which increased in density with age, and attenuated retinal vessels.Conclusions: Although additional studies with more patients with mutations of the EYS gene are required, it appears that patients share a relatively uniform phenotype with near-normal central visual function up to their twenties. The patients homozygous for the c. 4957_4958insA mutation showed a uniform course of visual acuity changes.