AI Article Synopsis
- The study examined the ocular features and treatment options for Waardenburg syndrome (WS) in five young patients.
- The main eye issues identified included telecanthus, iris hypopigmentation, and some cases of ptosis and strabismus, while other physical traits like hearing loss and broad nasal features were also noted.
- Treatment involved ocular plastic surgery for those with significant eyelid abnormalities, highlighting the importance of addressing these issues for the children's overall development.
Article 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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444341 | PMC |
| http://dx.doi.org/10.3892/etm.2020.9035 | DOI Listing |
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