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Year : 2018  |  Volume : 30  |  Issue : 2  |  Page : 155

Waardenburg syndrome

1 Department of Ophthalmology, Dr Yashwant Singh Parmar Government Medical College, Nahan, Himachal Pradesh, India
2 Private Practitioner, Shimla, Himachal Pradesh, India

Date of Web Publication28-Aug-2018

Correspondence Address:
Shveta Chauhan
Private Practitioner, Shimla, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kjo.kjo_54_18

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How to cite this article:
Chauhan A, Chauhan S. Waardenburg syndrome. Kerala J Ophthalmol 2018;30:155

How to cite this URL:
Chauhan A, Chauhan S. Waardenburg syndrome. Kerala J Ophthalmol [serial online] 2018 [cited 2022 Dec 8];30:155. Available from: http://www.kjophthal.com/text.asp?2018/30/2/155/239982

Dear Sir,

The excellent article on Waardenburg Syndrome (WS) by Chauhan et al.[1] highlights the important clinical aspects of this rare disease. We applaud the authors on diagnosing and managing the rare entity but would like to make interesting contributions which should never be missed.

First, the diagnostic criteria for WS must be stated. The criteria for diagnosis of WS state that the affected individuals should have at least two major criteria or one major criterion plus two minor criteria for definitive diagnosis of this condition. Diagnostic criteria for WS Type 1 are given below.[2]

Major criteria include congenital sensorineural hearing loss; white forelock, hair hypopigmentation; iris pigmentation abnormalities such as complete heterochromia iridum, segmental heterochromia, or complete hypoplastic blue irides (brilliant blue irides); dystopia canthorum, W index >1.95; affected first-degree relative.

Minor criteria include skin hypopigmentation (congenital leukoderma); synophrys/medial eyebrow flare; broad high nasal root, prominent columella; hypoplastic nasal alae; premature gray hair (age <30 years).

Second, a complete systemic workup of all such patients should be carried out as a number of organ systems are involved in WS and not just the eyes, ears, and skin as described. Oral manifestations of the syndrome described in literature are in the form of dental agenesis, cleft lip, cleft palate, tooth enamel malformations, and fissured tongue.[3] Other abnormalities that can be encountered are neural tube defects, Sprengel's shoulder, congenital heart abnormalities, Hirschsprung's disease, contractures, and limb muscle hypoplasia. Individuals with two major features and who do not have dystopia canthorum are considered to have WS2. Dystopia canthorum is considered to be the most penetrant feature in differentiating between WS1 and WS2.[4]

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There are no conflicts of interest.

  References Top

Chauhan N, Sharma G, Tuli R. An unusual case of Waardenburg syndrome in a female child. Kerala J Ophthalmol 2018;30:46-7.  Back to cited text no. 1
  [Full text]  
Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA. Waardenburg syndrome: Iris and choroidal hypopigmentation: Findings on anterior and posterior segment imaging. JAMA Ophthalmol 2013;131:1167-73.  Back to cited text no. 2
Sólia-Nasser L, de Aquino SN, Paranaíba LM, Gomes A, Dos-Santos-Neto P, Coletta RD, et al. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. Med Oral Patol Oral Cir Bucal 2016;21:e321-7.  Back to cited text no. 3
Bist J, Adhikari P, Sharma AK. Waardenburg syndrome. Clin Exp Optom 2011;94:240-2.  Back to cited text no. 4


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