Waardenburg Syndrome-Report of Three Cases in a Family

瓦登伯革症候群－家族病例報告

王璋驥(Cheung Kei Wong) ； 麥令琴(Elsa Lin Chin Mai) ； 李耀輝(Yao-Huei Lee)

《中華民國眼科醫學會雜誌》 38卷2期 (1999/06) Pp. 279-284

https://doi.org/10.30048/ACTASOS.199906.0012

摘要

本文報告三例瓦登伯革症候群，皆屬同一家族。第一例為一三十六歲母親，右眼虹彩全藍，左眼虹彩部份藍色，雙側全聾，內眥移位和雙側眼底色素變化。第二例為第一例十一歲之大女兒，右眼虹彩全藍，雙側全聾，內眥移位和雙側眼底色素變化，左眼之裸視及矯正視力分別為5/60及6/60。第三例為第一例九歲之小女兒，雙側虹彩全藍，雙側全聾，內眥移位和雙側眼底色素變化。

並列摘要

A 36 years old female has blue iris in her right eye, sector pigmentary change on her left iris, bilateral total deafness, dystopia canthorum and bilateral fundus pigmentary changes. Her 11 years old daughter has a blue iris in her right eye, bilateral total deafness, dystopia canthorum and bilateral fundus pigmentary changes. Gross and corrected visual acuity were 5/60 and 6/60 in her left eye. Her 9 years old daughter has bilateral blue irides, bilateral total deafness, dystopia canthorum and bilateral fundus pigmentary changes.

並列關鍵字

Blue iris ； Deafness ； Dystopia canthorum