Journal of Postgraduate Medicine
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CASE REPORT
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Year : 1995  |  Volume : 41  |  Issue : 4  |  Page : 111-2  

Waardenburg syndrome with anisocoria and exotropia.

YK Dastur, A Dudhani, A Chitale, S Dasgupta 
 Dept. of Ophthalmology, Seth GS Medical College, Parel, Mumbai.

Correspondence Address:
Y K Dastur
Dept. of Ophthalmology, Seth GS Medical College, Parel, Mumbai.

Abstract

A case of Waardenburg syndrome with unusual features such as anisocoria, exotropia is reported.



How to cite this article:
Dastur Y K, Dudhani A, Chitale A, Dasgupta S. Waardenburg syndrome with anisocoria and exotropia. J Postgrad Med 1995;41:111-2


How to cite this URL:
Dastur Y K, Dudhani A, Chitale A, Dasgupta S. Waardenburg syndrome with anisocoria and exotropia. J Postgrad Med [serial online] 1995 [cited 2022 Jan 29 ];41:111-2
Available from: https://www.jpgmonline.com/text.asp?1995/41/4/111/508


Full Text




  ::   IntroductionTop


The palpebral deformity due to widening of the inter-medial canthal distance with normal inter-lateral canthal distance was first noted by Van der Hoeve[1]. Waardenburg[2],[3] associated this type of paipebral deformity with a broad bridge of nose in 78%, confluence of eyebrows with hyper-trichosis of the medial ends in 45%, heterochromia of iris in 25% deafness in 20%, while forelock of hair and pigmentation of skin in 17%. This combination of signs is popularly known as Waardenburg syndrome which usually has an autosomal dominant mode of transmission.

The following case of Waardenburg syndrome is reported as it shows unusual additional features such as anisocoria and exotropia.


  ::   Case reportTop


A thirty year old female had hetero-chromic iris. On enquiry, there was no history of deafness or hetero-chromic in her relatives. She was born of a nonconsanguineous marriage.

On examination the patient had a central white forelock of hair, with poliosis of both the upper and lower eyelashes of both eyes, and outward displacement of medial can thus with inter-medial canthal distance of 38 mm [Figure:1] and [Figure:2]. Lacrimal passages were patent in both eyes.

The right eye had 6/6 vision without glasses. The external examination was normal with brisk pupil lary reaction to light. Extra-ocular muscle movements, ocular tension and fund us were normal.

The left eye had 6/18 vision with no improvement with glasses. The left iris was hetero-chromic with a miotic pupil of 2 mm size. Miosis was not associated with enophthalmos or anhidrosis on the left side. The pupil did not dilate with adrenaline or phenylepherine eye drops but dilated to 3 mm with atropine eye drops. Slit lamp examination showed no evidence of flare or KPs. The extra circular muscle movements and ocular tension were normal. Fund us had an albinotic appearance. Cover test revealed a real. Manifest, constant, alternating divergent concomitant squint of 20? with good central fixation. The worths 4 Dot Test and synaptophore showed that the patient had binocular vision.

ENT examination and audiometry showed no evidence of sensorineural deafness. Hemo gram, VDRL and Xray chest examination were normal. There was no evidence of skeletal or systemic anomalies on general examination.


  ::   DiscussionTop


The outward displacement of the medial canthi corresponds to the embryonic condition at the beginning of the third month of gestation[2],[3], Anomalies of pigmentation and deafness are due to developmental abnormality in the neural crest[4].

Our case had no positive family history hence it could have been a sporadic case due to incomplete penetrance of the gene and variable expressivity[2],[3],[5]. This case belonged to Waardenburg Type 1 since there was evidence of dystopia cantborum. Further there were evidences of white forelock of hair, poliosis, unilateral diffuse hetero-chromic and unilateral albinotic fund us[5]. Our case did not show signs of deafness upper limb defects, vitiligo, craniostenosis, Hirchsprung’s disease, ventriculoseptal defect, alopecia or lacrimal sac mucocoele[5],[6],[7].

Our case showed an unusual feature such as anisocoria due to a left sided miotic pupil which did not dilate with adrenaline or phenylepherine eye drops but dilated minimally with atropine eye drops. This suggests that while there was some sphincter pupillae activity the dilator muscle was totally inactive. These unusual pupillary signs could he attributed to the defects of migration of neural cells. Further our case showed evidence of a real, alternating, exotropia which is an unusual feature since Waardenburg syndrome cases usually have esoiropia. Nearly 20% of cases of Waardenburg syndrome have esotropia[6].

References

1 Duke Elder S System of Ophth. Vol III. Part 2, Congenital Deformities, 2nd Edition, London. Henry Kimpton, 1967; 1141
2Waardenburg PJ. Intraocularpigmentary dyspiasia Graefes Arch Ophthal 1930; 124:221.
3Waardenburg PJ. Embryonic fixation syndrome. Am J Hum Genetics 1951; 3:195.
4Fisch L. Congenital deafness in Waardenburg Syndrome J Laryn Otology 1959; 73:35
5Garnett AR, Waardenburg syndrome in birth defects Encyclo-pedia. Buyse ML, Blackwell Scientific Publications, U.S.A., 1990; 177374.
6Boparai MS, Sohi BK, Sohi AS. Waardenburg Syndrome. Ind J Ophth 1979; 27:212.
7Joseph TA Chakravarthy KS. Waardenburg Syndrome. Ind J Ophth 1980; 28:378.

 
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