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   Table of Contents      
OPHTHALMIC IMAGE
Year : 2019  |  Volume : 67  |  Issue : 1  |  Page : 135

When color matters: Waardenburg syndrome


1 Ophthalmic Plastic Surgery Service, L V Prasad Eye Institute, Hyderabad-34, India
2 KannuriSanthama Centre for Vitreoretinal Diseases, L V Prasad Eye Institute, Hyderabad-34, India

Date of Web Publication21-Dec-2018

Correspondence Address:
Dr. Tarjani V Dave
Ophthalmic Plastic Surgery Service, L V Prasad Eye Institute, Hyderabad - 500 034
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_889_18

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How to cite this article:
Dave TV, Pappuru RR, Dave VP. When color matters: Waardenburg syndrome. Indian J Ophthalmol 2019;67:135

How to cite this URL:
Dave TV, Pappuru RR, Dave VP. When color matters: Waardenburg syndrome. Indian J Ophthalmol [serial online] 2019 [cited 2019 Mar 23];67:135. Available from: http://www.ijo.in/text.asp?2019/67/1/135/248177



A 27-year-old Asian-Indian lady, systemically normal, with diffuse iris hypopigmentation, telecanthus, mild synophrys with a congenital white forelock treated with hair color and 20/20 vision in both eyes presented for treatment of the heterogeneous iris color [Figure 1]a. Fundus examination revealed a sectoral superonasal hypopigmented choroid in the left eye [Figure 1]b. Fundus autofluorescence revealed hyperautofluorescence through the hypopigmented choroidal region in the left eye [Figure 1]c, indicating unmasking of scleral autofluorescence. The patient was diagnosed as a case of Waardenburg syndrome Type 1 and was offered a cosmetic contact lens. Audiometry on both sides and gastrointestinal examination was normal.
Figure 1: Waardenburg Syndrome (a) External photograph showing telecanthus. Yellow arrow indicates the left heterochromia iridum. (b): Montage Fundus photograph of the left eye. White arrowheads indicate the junction of the hypopigmented choroid and the normal choroid. (c) Montage autofluorescence. Yellow arrowheads indicate the area of hyperautofluorescence

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Waardenburg syndrome has four subtypes distinguished by their physical characteristics and sometimes by their genetic cause.[1],[2],[3],[4],[5] Iris and choroidal hypopigmentation are central to all the subtypes [Figure 1]. Telecanthus is more frequent in type 1, and hearing loss is more frequent in Type II. Type III includes limb anomalies predominantly of upper limb. Type IV is associated with Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine. According to the phenotypic presentation, the systemic work-up to classify the patient into one of the subtypes is crucial.

This study is supported by research grant from the Hyderabad Eye Research Foundation.

There are no conflicts of interest.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

Meeting presentation

None.



 
  References Top

1.
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. 1
    
2.
Choudhry N, Rao RC. Multimodal ultrawide-field imaging features in waardenburg syndrome. Ophthalmic Surg Lasers Imaging Retina 2015;46:670-3.  Back to cited text no. 2
    
3.
Bansal Y, Jain P, Goyal G, Singh M, Mishra C. Waardenburg syndrome-a case report. Cont Lens Anterior Eye 2013;36:49-51.  Back to cited text no. 3
    
4.
Eigelshoven S, Kameda G, Kortüm AK, Hübsch S, Angerstein W, Singh P, et al. Waardenburg syndrome type I with heterochromiairidis and circumscribed hypopigmentation of the skin. PediatrDermatol 2009;26:759-61.  Back to cited text no. 4
    
5.
Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye (Lond) 1998;12:353-7.  Back to cited text no. 5
    


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