Advancements in ophthalmological research on Waardenburg syndrome
10.3760/cma.j.cn511434-20231107-00445
- VernacularTitle:Waardenburg综合征眼科的研究进展
- Author:
Ruoxi LIU
1
;
Yi FANG
;
Zhaohui LI
;
Fang YANG
Author Information
1. 黑龙江中医药大学附属第二医院眼科，哈尔滨 150001
- Keywords:
Waardenburg syndrome;
Genetic disorder;
Genetic mutation;
Heterochromia iridum;
Choroidal pigment deposition;
Review
- From:
Chinese Journal of Ocular Fundus Diseases
2024;40(7):560-563
- CountryChina
- Language:Chinese
-
Abstract:
Waardenburg syndrome is a rare genetic disease of auditory pigmentation. The main symptom is sensorineural hearing loss. Pigment disorders and other developmental defects in skin, hair, iris, fundus and other parts are specifically divided into four different subtypes, each of which corresponds to different pathogenic genes, which encode transcription factors and signaling molecules that play a key role in the development process of neural crest cells into melanocytes. Because there are multiple subtypes of Waardenburg syndrome, different subtypes exhibit different symptoms, signs and ocular manifestations. Patients with Waardenburg syndrome are often first treated in ENT head and neck surgery due to hearing loss. Lack of theoretical knowledge related to Waardenburg syndrome by ophthalmologists may lead to misdiagnosis or missed diagnosis. Although there are currently limited treatments for the disease, with the continuous development of gene therapy and hearing management methods, the future treatment prospects will be broader.
