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Year : 2018  |  Volume : 30  |  Issue : 1  |  Page : 46-47

An unusual case of Waardenburg syndrome in a female child

1 Department of Ophthalmology, Regional Hospital, Kullu, Himachal Pradesh, India
2 Department of Ophthalmology, Dr. bRajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India

Date of Web Publication7-Jun-2018

Correspondence Address:
Neha Chauhan
C/o Sh. Shashi Kant Sood, Village Dehan, Post Office Maranda, Tehsil Palampur, Kangra - 176 102, Himachal Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/kjo.kjo_15_18

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Ocular albinism is characterized by congenital nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus and foveal hypoplasia. We report a case with clinical manifestations consistent with the phenotypes of WS1. The differentiating feature from uniocular albinism is the presence of dystopia canthorum.

Keywords: Pseudoesotropia, telecanthus, Waardenburg

How to cite this article:
Chauhan N, Sharma G, Tuli R. An unusual case of Waardenburg syndrome in a female child. Kerala J Ophthalmol 2018;30:46-7

How to cite this URL:
Chauhan N, Sharma G, Tuli R. An unusual case of Waardenburg syndrome in a female child. Kerala J Ophthalmol [serial online] 2018 [cited 2021 Jul 26];30:46-7. Available from: http://www.kjophthal.com/text.asp?2018/30/1/46/233772

  Introduction Top

Ocular albinism is a disorder of melanosome biogenesis leading to congenital and persistent visual impairment in affected males. The condition is usually inherited as an X-linked recessive trait where males are affected by the condition and females are carriers. Autosomal recessive forms of inheritance have however been reported. The affected males have normal hair and skin color but are deficient in the number of melanosomes in the eye. Ocular albinism is characterized by congenital nystagmus, reduced visual acuity, hypopigmentation of the iris pigment epithelium and the ocular fundus and foveal hypoplasia.[1] Cases of Waardenburg syndrome with craniofacial dysmorphism, pigmentation defects, and severe sensorineural congenital hearing impairment have been reported;[2] however, this is a rare case with uniocular pigment abnormalities and associated telecanthus.

  Case Report Top

A 9-year-old female child presented to our department with her mother with the chief complaint of redness and watering from her right eye for the last 1 month.

On examination, her visual acuity was 6/24 that improved to 6/6 partial with pin hole in the right eye and was 6/9 in the left eye. The visual axis was parallel, and the pupils reacted normally to light. On slit-lamp examination, there was mild conjunctival congestion in the right eye along with papillary hyperplasia and conjunctival xerosis. Heterochromia iridum was noted with iris on the right side showing a lighter color along with telecanthus, epicanthus, and pseudoesotropia [Figure 1]. The entire fundus in the right eye was also hypopigmented showing the underlying choroidal vasculature. Her mother also had dystopia canthorum and broad nasal root. On hearing assessment of the child, no abnormality was detected.
Figure 1: Clinical photograph of the child showing heterochromia iridum with telecanthus

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  Discussion Top

Waardenburg syndrome (WS) is an inherited disorder characterized by varying degrees of hearing loss and pigmentary anomalies affecting the eye, hair, and skin. WS is clinically heterogeneous and has been classified into four major types and 10 subtypes. WS type 1 (WS1) and type 2 (WS2) are more common than type 3 (WS3) and type 4 (WS4). Overall, the syndrome affects perhaps 1 in 42,000 people.[3] Telecanthus is the most important sign for the differentiation between WS 1 and WS2 because it is present in the vast majority (95%–99%) of WS1 patients and virtually absent in those with the WS2 variant. Telecanthus is classically described as an increase of inner ocular intercanthal distance with preservation of both interpupillary and outer intercanthal distances.[2] Mutations in the paired box gene 3 (PAX3) have been identified to be responsible for WS1.[4] PAX3 encodes a member of the mammalian PAX family of transcription factors, which contains two highly conserved domains for DNA binding, paired box domain, and paired-type homeodomain. Alternative splicing of PAX3 results in several different length transcripts, of which the longest transcript contains 10 exons and consequent proteins with distinct carboxyl termini. PAX3 plays a regulatory role in the early embryonic development of the pigment system and is required to expand a pool of committed melanoblasts or restricted progenitor cells early in development. Heterozygous mutations in PAX3 have been reported in familial and sporadic WS1, while heterozygous or homozygous mutations have been detected in patients with WS3.

In a study done on Chinese patients with WS1, all patients presented with dystopia canthorum and different colors of the irises and fundi, but none of those showed visible pigmentary changes on their hair and skin, indicating an ethnic-specific phenotype.[5]

In our case, the clinical manifestations are consistent with the phenotypes of WS1; however, pigmentary changes in the hair, skin, eyebrows, and eyelashes are absent and cannot be attributed to ethnicity as in the previously reported case. The differentiating feature from uniocular albinism is the presence of dystopia canthorum which was characteristically significant.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Hazel Sacharowitz, Dip Optom FOA(SA) FAAO University of Johannesburg, Auckland Park. Ocular albinism-A case report. Eyesite magazine 2007;3.  Back to cited text no. 1
Pardono E et al. Waardenburg syndrome: clinical differentiation between types I and II. Am J Med Genet A 2003;117A:223-35.  Back to cited text no. 2
Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet 1951;3:195-253.  Back to cited text no. 3
Epstein DJ, Vekemans M, Gros P. Splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3. Cell 1991;67:767-74.  Back to cited text no. 4
Wang J, Li S, Xiao X, Wang P, Guo X, Zhang Q, et al. PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. Mol Vis 2010;16:1146-53.  Back to cited text no. 5


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