Chua, Shee Wen and Safinaz Mohd Khialdin and Mushawiahti Mustapha and Norshamsiah Md Din and Yong, Meng Hsien (2022) Association of type II Waardenburg syndrome with hypermetropic amblyopia. International Journal of Ophthalmology, 15. pp. 677-680. ISSN 2222-3959 (P-ISSN) , 2227-4898 (E-ISSN)
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Association of type II Waardenburg syndrome with hypermetropic amblyopia _ABSTRACT.pdf Download (62kB) |
Abstract
We present a case of hypermetropic amblyopia in type II Waardenburg syndrome (WS) to highlight the association. WS is an “oculo-dermato-auditif” dysplasia described in 1947 by Waardenburg and by Klein in 1950. It is distributed worldwide, with no predilection for race or gender. The prevalence is estimated to be 1:42 000 live births in the general population. WS is a genetic disease with autosomal dominant transmission with incomplete penetrance and variable expressivity. Complex network of interaction between six genes have been identified to date. They are PAX3 gene, primarily responsible for type I and III WS; MITF, SOX10, and SNAI2 genes in type II WS; EDN3 and EDNRB genes in type IV WS.
| Item Type: | Article |
|---|---|
| Keyword: | Waardenburg syndrome , Hypermetropic amblyopia |
| Subjects: | R Medicine > RE Ophthalmology > RE1-994 Ophthalmology |
| Department: | FACULTY > Faculty of Medicine and Health Sciences |
| Depositing User: | SAFRUDIN BIN DARUN - |
| Date Deposited: | 09 Aug 2022 09:47 |
| Last Modified: | 09 Aug 2022 09:47 |
| URI: | https://eprints.ums.edu.my/id/eprint/29140 |
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