Fukiyama Yurie, Tonari Masahiro, Matsuo Junko, Oku Hidehiro, Sugasawa Jun, Shimakawa Shuichi, Ogihara Tohru, Okamoto Nobuhiko, Ikeda Tsunehiko
Department of Ophthalmology, Osaka Medical College, Takatsuki-City, Japan.
Department of Pediatrics, Osaka Medical College, Takatsuki-City, Japan.
Case Rep Ophthalmol. 2018 Feb 1;9(1):102-107. doi: 10.1159/000485964. eCollection 2018 Jan-Apr.
To report a case of fundus oculi albinoticus diagnosed as Angelman syndrome (AS) via genetic testing.
This study reports on a 4-year-old boy. Since he had been having respiratory disturbance since birth, he underwent a complete physical examination to investigate the cause. The results indicated that he had various brain congenital abnormalities, such as a thin corpus callosum, as well as hydronephrosis, an atrial septal defect, and skin similar to patients with fundus oculi albinoticus. Examination revealed bilateral fundus oculi albinoticus, mild iridic hypopigmentation, optic atrophy, and poor visual tracking. Genetic testing revealed a deletion in the Prader-Willi syndrome/AS region on chromosome 15, and together with the results of methylation analysis, his condition was diagnosed as AS. Follow-up examinations revealed no change in the fundus oculi albinoticus and optic atrophy, nor did they indicate poor visual tracking.
When fundus oculi albinoticus and optic atrophy are observed in patients with multiple malformations, AS should be considered as a differential diagnosis.
报告一例经基因检测诊断为天使综合征（AS）的眼底白化病病例。
本研究报道一名4岁男孩。自出生以来他一直有呼吸障碍，因此接受了全面体检以探究病因。结果显示他有多种脑部先天性异常，如胼胝体薄，还有肾积水、房间隔缺损以及与眼底白化病患者相似的皮肤。检查发现双侧眼底白化病、轻度虹膜色素减退、视神经萎缩以及视觉追踪能力差。基因检测显示15号染色体上普拉德-威利综合征/天使综合征区域存在缺失，结合甲基化分析结果，他的病情被诊断为天使综合征。随访检查显示眼底白化病和视神经萎缩无变化，视觉追踪能力也未变差。
在有多系统畸形的患者中观察到眼底白化病和视神经萎缩时，应考虑将天使综合征作为鉴别诊断。
