一名患有贝克威思-维德曼综合征的婴儿出现单侧扇形虹膜异色症的病例。
A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome.
作者信息
Alnefaie Maram, Jefri Mona, Almahmoudi Fayqah
机构信息
Umm Al-Qura University Faculty of Medicine, Makkah, Saudi Arabia.
King Fahd Armed Forces Hospital, Department of Ophthalmology, Jeddah, Saudi Arabia.
出版信息
Am J Ophthalmol Case Rep. 2021 Jun 16;23:101150. doi: 10.1016/j.ajoc.2021.101150. eCollection 2021 Sep.
PURPOSE
To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS).
OBSERVATIONS
An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and an unusual finding of partial iris hypopegmentaion in her left eye.
CONCLUSIONS
This is the first reported case of iris heterochromia in a BWS patient. Further studies are needed to support the association between eye findings and BWS related genetic defects.
目的
报告1例患有贝克威思-维德曼综合征（BWS）的婴儿单侧扇形虹膜异色症。
观察结果
一名8个月大的女童，已知患有BWS，病因是11号染色体p15.5区域的DMR2（KCNQ1OT1）发生低甲基化，表现为巨舌症、新生儿低血糖，左眼出现部分虹膜色素脱失这一异常表现。
结论
这是首例报道的BWS患者出现虹膜异色症的病例。需要进一步研究以支持眼部表现与BWS相关基因缺陷之间的关联。
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