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Published on: May 25, 2020
Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
Li Zhang1, Yue Wan2, Ningli Wang2
1Beijing Institute of Ophthalmology, Beijing Ophthalmology & Visual Sciences Key Laboratory, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 17 Hougou Line, Chongnei Street, Dongcheng District, Beijing, 100005, China. zhanglijye@126.com.
Waardenburg syndrome, a genetic disorder affecting pigmentation and hearing, can co-occur with open-angle glaucoma. This case highlights compound heterozygous mutations in the EDNRB gene, expanding the known clinical spectrum of Waardenburg syndrome.
Area of Science:
- Genetics
- Ophthalmology
- Medical Case Reports
Background:
- Waardenburg syndrome is an autosomal dominant disorder characterized by sensorineural hearing loss and abnormal pigmentation.
- It presents in four types (1-4), with mutations identified in six genes.
- This report details a rare co-occurrence of Waardenburg syndrome type 4 and open-angle glaucoma.
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