Open Access

Ophthalmological features and treatments in five cases of Waardenburg syndrome

  • Authors:
    • Yan Liu
    • Hui Pan
    • Jing Wang
    • Qinke Yao
    • Ming Lin
    • Bo Ma
    • Jin Li
  • View Affiliations

  • Published online on: July 23, 2020     https://doi.org/10.3892/etm.2020.9035
  • Pages: 3072-3077
  • Copyright: © Liu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

The present study aimed to investigate the ocular characteristics and treatment of Waardenburg syndrome (WS). A total of five patients with Waardenburg syndrome from our hospital, aged between 1 and 8 years, were included in the present study. The clinical data of these patients were analyzed, and the ocular manifestations and treatments were described. The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5). Ophthalmological evaluations revealed ptosis (1/5), strabismus 1 (1/5), synophrys (2/5), telecanthus (5/5), iris hypopigmentation (5/5), high intraocular pressure (1/5) and choroidal hypopigmentation (1/5). For patients with characteristic external eye abnormalities, including ptosis, ocular plastic surgery was performed. For patients with only symptoms of iris heterochromia, no special treatment was required. The findings from the present study suggest that patients with WS may have several characteristic ocular manifestations. Abnormalities in the eyelid can be corrected by ocular plastic surgery, which is beneficial to children's physical and mental development.
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October-2020
Volume 20 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Liu Y, Pan H, Wang J, Yao Q, Lin M, Ma B and Li J: Ophthalmological features and treatments in five cases of Waardenburg syndrome. Exp Ther Med 20: 3072-3077, 2020
APA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., & Li, J. (2020). Ophthalmological features and treatments in five cases of Waardenburg syndrome. Experimental and Therapeutic Medicine, 20, 3072-3077. https://doi.org/10.3892/etm.2020.9035
MLA
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20.4 (2020): 3072-3077.
Chicago
Liu, Y., Pan, H., Wang, J., Yao, Q., Lin, M., Ma, B., Li, J."Ophthalmological features and treatments in five cases of Waardenburg syndrome". Experimental and Therapeutic Medicine 20, no. 4 (2020): 3072-3077. https://doi.org/10.3892/etm.2020.9035