Association of type II Waardenburg syndrome with hypermetropic amblyopia
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 es...
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my.ums.eprints.291402022-08-09T01:47:46Z https://eprints.ums.edu.my/id/eprint/29140/ Association of type II Waardenburg syndrome with hypermetropic amblyopia Chua, Shee Wen Safinaz Mohd Khialdin Mushawiahti Mustapha Norshamsiah Md Din Yong, Meng Hsien RE1-994 Ophthalmology 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. Press of International Journal of Ophthalmology 2022 Article PeerReviewed text en https://eprints.ums.edu.my/id/eprint/29140/1/Association%20of%20type%20II%20Waardenburg%20syndrome%20with%20hypermetropic%20amblyopia.pdf text en https://eprints.ums.edu.my/id/eprint/29140/2/Association%20of%20type%20II%20Waardenburg%20syndrome%20with%20hypermetropic%20amblyopia%20_ABSTRACT.pdf 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) http://ies.ijo.cn/gjyken/ch/reader/create_pdf.aspx?file_no=20220426&flag=1&journal_id=gjyken https://doi.org/10.18240/ijo.2022.04.26 |
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RE1-994 Ophthalmology Chua, Shee Wen Safinaz Mohd Khialdin Mushawiahti Mustapha Norshamsiah Md Din Yong, Meng Hsien Association of type II Waardenburg syndrome with hypermetropic amblyopia |
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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. |
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Article |
author |
Chua, Shee Wen Safinaz Mohd Khialdin Mushawiahti Mustapha Norshamsiah Md Din Yong, Meng Hsien |
author_facet |
Chua, Shee Wen Safinaz Mohd Khialdin Mushawiahti Mustapha Norshamsiah Md Din Yong, Meng Hsien |
author_sort |
Chua, Shee Wen |
title |
Association of type II Waardenburg syndrome with hypermetropic amblyopia |
title_short |
Association of type II Waardenburg syndrome with hypermetropic amblyopia |
title_full |
Association of type II Waardenburg syndrome with hypermetropic amblyopia |
title_fullStr |
Association of type II Waardenburg syndrome with hypermetropic amblyopia |
title_full_unstemmed |
Association of type II Waardenburg syndrome with hypermetropic amblyopia |
title_sort |
association of type ii waardenburg syndrome with hypermetropic amblyopia |
publisher |
Press of International Journal of Ophthalmology |
publishDate |
2022 |
url |
https://eprints.ums.edu.my/id/eprint/29140/1/Association%20of%20type%20II%20Waardenburg%20syndrome%20with%20hypermetropic%20amblyopia.pdf https://eprints.ums.edu.my/id/eprint/29140/2/Association%20of%20type%20II%20Waardenburg%20syndrome%20with%20hypermetropic%20amblyopia%20_ABSTRACT.pdf https://eprints.ums.edu.my/id/eprint/29140/ http://ies.ijo.cn/gjyken/ch/reader/create_pdf.aspx?file_no=20220426&flag=1&journal_id=gjyken https://doi.org/10.18240/ijo.2022.04.26 |
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