Waardenburg syndrome with dry eyes: A rare association
Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare c...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Taiwan Journal of Ophthalmology |
| Subjects: | |
| Online Access: | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2019;volume=9;issue=3;spage=198;epage=201;aulast=Singh |
| _version_ | 1828387459397844992 |
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| author | Shrinkhal Anupam Singh Sanjeev Kumar Mittal Ajai Agrawal Rupal Verma Preeti Yadav |
| author_facet | Shrinkhal Anupam Singh Sanjeev Kumar Mittal Ajai Agrawal Rupal Verma Preeti Yadav |
| author_sort | Shrinkhal |
| collection | DOAJ |
| description | Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes. |
| first_indexed | 2024-12-10T05:53:38Z |
| format | Article |
| id | doaj.art-b09d5903188c4ea9a179c4d18c2f454b |
| institution | Directory Open Access Journal |
| issn | 2211-5056 2211-5072 |
| language | English |
| last_indexed | 2024-12-10T05:53:38Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Taiwan Journal of Ophthalmology |
| spelling | doaj.art-b09d5903188c4ea9a179c4d18c2f454b2022-12-22T01:59:59ZengWolters Kluwer Medknow PublicationsTaiwan Journal of Ophthalmology2211-50562211-50722019-01-019319820110.4103/tjo.tjo_103_18Waardenburg syndrome with dry eyes: A rare associationShrinkhalAnupam SinghSanjeev Kumar MittalAjai AgrawalRupal VermaPreeti YadavWaardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; and/or congenital deafness. Here, we report a rare case of WS with associated dry eyes. A 4-year-old female presented with blue eyes and no tear and nasal secretion production since birth. She was also deaf and dumb since birth. On examination, it was recognized as an atypical case of WS type 2 clinically, with several classical features such as white forelock, bilateral blue iris, hypopigmented fundus, smooth philtrum, bilateral profound hearing loss, and a rare association of bilateral dry eyes. The patient was given proper refractive correction, treatment of her dry eyes, and subjected to multidisciplinary approach as for the management of sensorineural hearing loss. It was a case of WS type 2 with a rare association of bilateral dry eyes.http://www.e-tjo.org/article.asp?issn=2211-5056;year=2019;volume=9;issue=3;spage=198;epage=201;aulast=SinghBlue irisdry eyeWaardenburg syndromewhite forelock |
| spellingShingle | Shrinkhal Anupam Singh Sanjeev Kumar Mittal Ajai Agrawal Rupal Verma Preeti Yadav Waardenburg syndrome with dry eyes: A rare association Taiwan Journal of Ophthalmology Blue iris dry eye Waardenburg syndrome white forelock |
| title | Waardenburg syndrome with dry eyes: A rare association |
| title_full | Waardenburg syndrome with dry eyes: A rare association |
| title_fullStr | Waardenburg syndrome with dry eyes: A rare association |
| title_full_unstemmed | Waardenburg syndrome with dry eyes: A rare association |
| title_short | Waardenburg syndrome with dry eyes: A rare association |
| title_sort | waardenburg syndrome with dry eyes a rare association |
| topic | Blue iris dry eye Waardenburg syndrome white forelock |
| url | http://www.e-tjo.org/article.asp?issn=2211-5056;year=2019;volume=9;issue=3;spage=198;epage=201;aulast=Singh |
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