Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene

被引:29
作者
Katagiri, Satoshi [1 ,2 ]
Akahori, Masakazu [1 ]
Hayashi, Takaaki [2 ]
Yoshitake, Kazutoshi [3 ]
Gekka, Tamaki [2 ]
Ikeo, Kazuho [3 ]
Tsuneoka, Hiroshi [2 ]
Iwata, Takeshi [1 ]
机构
[1] Natl Hosp Org Tokyo Med Ctr, Natl Inst Sensory Organs, Div Mol & Cellular Biol, Tokyo, Japan
[2] Jikei Univ, Sch Med, Dept Ophthalmol, Minato Ku, Tokyo 1058461, Japan
[3] Natl Inst Genet, Lab DNA Data Anal, Shizuoka, Japan
关键词
EYS gene; Whole-exome sequencing; Genetics; Retinitis pigmentosa; Cone-rod dystrophy; EARLY MACULAR INVOLVEMENT; RETINITIS-PIGMENTOSA; RETINAL DEGENERATION; ORTHOLOG; CERKL; IDENTIFICATION; C8ORF37; ABCR;
D O I
10.1007/s10633-014-9435-0
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
EYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone-rod dystrophy (arCRD) and EYS mutations. We performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using whole-exome sequencing and Sanger sequencing was performed to identify the disease-causing mutation in a 31-year-old male patient. At the initial visit, the patient's decimal best-corrected visual acuity (BCVA) was 0.9 and 0.6 in his right and left eyes, respectively. Funduscopy indicated retinal degenerations were predominantly affected within the vascular arcades and preserved retinal vessels in the mid-periphery in both eyes. Visual field testing showed there were relative central scotomas and preserved peripheral visual fields in both eyes. ERG indicated there was a decreased pattern for both the rod and cone responses. At the age of 36 years, his BCVA decreased to 0.2 in both eyes. Optical coherence tomography showed marked retinal thinning of the macular regions in both eyes. Genetic analysis identified compound heterozygous truncating mutations (p.Y2935X and p.S1653KfsX2) in the EYS gene. His unaffected parents were heterozygous for each mutation. Our results demonstrated that EYS mutations can be the cause of not only arRP but also arCRD. Our findings extend the phenotypic spectrum of patients with EYS mutations.
引用
收藏
页码:211 / 217
页数:7
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