Year : 2000 | Volume
: 48 | Issue : 1 | Page : 49--50
Open angle glaucoma as a manifestation of Waardenburg's syndrome.
V Gupta, HC Aggarwal
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All Institute of Medical Sciences, New Delhi-110029, India
Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All Institute of Medical Sciences, New Delhi-110029
Waardenburg«SQ»s syndrome is a rare, autosomal dominant disorder, with several clinical signs, each with variable penetrance. We report this case of Waardenburg«SQ»s syndrome with bilateral open-angle glaucoma with unique gonioscopic findings.
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Gupta V, Aggarwal H C. Open angle glaucoma as a manifestation of Waardenburg's syndrome. Indian J Ophthalmol 2000;48:49-50
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Gupta V, Aggarwal H C. Open angle glaucoma as a manifestation of Waardenburg's syndrome. Indian J Ophthalmol [serial online] 2000 [cited 2022 May 17 ];48:49-50
Available from: https://www.ijo.in/text.asp?2000/48/1/49/14854
Waardenburg (1951) described the following features (in order of decreasing frequency): lateral displacement of the inner canthi; dystopia canthorum (99%), prominence of the root of the nose (78%), hyperplasia of the medial brows; synophrys (45%), heterochromia irides (25%) congenital deafness (20%) and circumscribed hypochromia of hair; or white forelock (17%).
All patients do not experience the complete syndrome, but usually present with a combination of two or more of the above features. McDonald and Harrison proposed that at least 3 clinical signs in one patient or more than 2 patients with 2 signs in one family were sufficient to make a diagnosis of the syndrome. On the basis of the presence or absence of dystopia canthorum, Arias divided the syndrome into three distinct types: Type 1, with dystopia canthorum; Type 2, without dystopia canthorum; and Type 3 without dystopia canthorum but with one-sided ptosis.
A 40-year-old male presented for glaucoma evaluation after a high intraocular pressure (IOP) recorded on a routine check up. On examination he had normal skin colouration without hyper- or hypopigmented spots on his body. His face showed a prominence of the root of the nose, hyperplasia of the brows, and a white forelock of hair. The distance between the medial canthi and upper puncta was 4mm and was 5mm between the medial canthi and lower puncta of each eye, values suggesting a dystopia canthorum. The patient was emmetropic and had 6/6 vision in both eyes. The conjunctiva and sclera were normally pigmented. Anterior chamber depth was normal. The iris on both sides had a superior sectoral hypochromia. The hypochromic iris was whitish blue, with normal crypts and moderately thin stroma; however, the pupillary border was brown in both the brown and blue segments [Figure:1]. There was no iris trans-illumination. The pupils were round and equal in size. The angle was open in both the eyes and structures up to the cilliary body band could be seen. There were localised areas of pigmentation, probably clumps of persistent mesodermal tissue, seen more in the inferior than superior angle [Figure:2]. No peripheral anterior synechiae could be seen in either eye. The mean intraocular pressure (IOP) after diurnal variation was 32 mmHg in the right eye and 34 mmHg in the left eye. Fundus showed a cup: disc ratio of 0.5:1 in either eye. There was pallor of the neuroretinal rim with thinning of the rim inferiorly in right eye and superiorly in the left eye. There were no hypochromic areas nor was any pigmentary stippling observed in the periphery of the fundus. Visual fields with the Humphrey analyser were done using the 30-2 threshold test with Fastpac strategy repeated twice at an interval of one month. The mean deviation (MD) was-10db (p<0.5%) in both eyes, short-term fluctuation was 4.7db (p<2%) in right eye and 2.7db (p< 10%) in left eye and the corrected pattern standard deviation was 2.1db (p<10%) in right eye and 8.6db (p<0.5%) in left eye. The visual field defects in both eyes showed formation of a nasal step superiorly in right eye and inferiorly in left eye, suggestive of early glaucomatous defects. The IOP was controlled on Timolol 0.5% twice a day and Pilocarpine 2% three times a day.
The patient did not have any hearing deficit and family history was not contributory.
According to Arias' classification this is a case of Waardenburg's syndrome Type 1. While Type 2 is caused by a mutation in the MITF gene, Type 1 is caused by a mutation in the PAX3 gene.
Although glaucoma has not been considered to be an associated finding in Waardenburg's syndrome, Waardenburg's first patient did have bilateral open-angle glaucoma with bilateral iris hypochromia. Kadoi and Hayaska in 1996 reported a patient of Waardenburg's syndrome with branch retinal vein occlusion and elevated IOP. Nork et al also described a patient of Waardenburg's syndrome with advanced bilateral glaucoma and narrow irido-corneal angles. As postulated by them we believe that since ocular and dermal melanocytes are derived from the neural crest, a defect in pigmentation might lead to developmental abnormalities in these structures. Though early onset open-angle glaucoma in the patient could be due to a chance association, a larger series of Waardenburg's cases may support this association of glaucoma with this syndrome.
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|5||Nork IM, Shihab ZM, Young RSL, Price J. Pigment distribution in Waardenburg syndrome: A new hypothesis. Graefe's Arch Exp Ophthalmol 1986;224:487-92.|