J Korean Ophthalmol Soc.  2010 Oct;51(10):1423-1426.

A Case of Waardenburg Syndrome Type 2 With Anisocoria

• Lee SC

Abstract

PURPOSE
To report a case of Type 2 Waardenburg syndrome with anisocoria.
CASE SUMMARY
A 53-year-old woman with congenital deafness visited the clinic complaining of photophobia and heterochromic iris in the left eye. Her best-corrected visual acuity was 1.0 in the right eye and 0.7 in the left eye. The patient's left eye showed complete iris hypopigmentation, and the right eye showed segmental iris hypopigmentation. Fundus examination demonstrated generalized decrease in retinal pigment with focal hypopigmented lesions in both eyes. The pupil sizes were 3 mm in the right eye and 5 mm in the left eye. A pure tone audiogram showed profound bilateral sensorineural hearing loss.
CONCLUSIONS
In the present case, mydriasis was found to exist in a completely hypopigmented iris. Therefore, the neural crest from which the pupillary constrictor muscle originates may play a role in the pathogenesis of Waardenburg syndrome.

Keyword

Anisocoria; Heterochromic iris; Neural crest; Waardenburg syndrome

MeSH Terms

Anisocoria
Deafness
Eye
Female
Hearing Loss, Sensorineural
Humans
Hypopigmentation
Iris
Middle Aged
Muscles
Mydriasis
Neural Crest
Photophobia
Pupil
Retinaldehyde
Visual Acuity
Waardenburg Syndrome
Retinaldehyde
Waardenburg Syndrome

Figure

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  Figure 1. Right eye (A) showed segmental (11 o'clock) iris hypopigmentation and left eye (B) showed complete iris hypopigmentation with a dilated pupil.

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  Figure 2. Fundus photographs show generalized decrease in retinal pigment with prominent choroidal vasculature (A) right eye, (B) left eye.

Reference

References

1. Waardenburg PJ. A new syndrome combining development anomalies of 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.

2. Kim DK, Kim JH. A case of Waardenburg's syndrome. J Korean Ophthalmol Soc. 1981; 22:687–91.

3. Lee OY, Choi YC, Jung NH. A case of type 2 Waardenburg syndrome with open-angle glaucoma. J Korean Ophthalmol Soc. 1999; 40:3532–35.

4. Kee SY, Lee YC, Lee SY. Type 3 Waardenburg syndrome. J Korean Ophthalmol Soc. 2005; 46:726–30.

5. Lim JO, Chung GW, Cho BC. A case of Waardenburg's syndrome. J Korean Ophthalmol Soc. 1986; 27:271–5.

6. Moon YS, Kim JC. Two case of Waardenburg syndrome. J Korean Ophthalmol Soc. 1986; 27:735–40.

7. Song HK, Shin DE. Three case of Waardenburg syndrome in one family. J Korean Ophthalmol Soc. 1987; 28:1137–42.

8. Lee DW, Lee JH, Chang MW. A case of Waardenburg's syndrome. J Korean Ophthalmol Soc. 1997; 38:2247–50.

9. Choi JH, Moon SK, Lee KH, et al. Three cases of Waardenburg syndrome type 2 in a Korean family. Korean J Ophthalmol. 2004; 18:185–9.

10. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. 1997; 34:656–65.

11. Tassabehji M, Newton VE, Liu XZ, et al. The mutational spectrum in Waardenburg syndrome. Hum Mol Genet. 1995; 4:2131–7.

12. Mullaney PB, Parsons MA, Weatherhead RG, Karcioglu ZA. Clinical and morphological features of Waardenburg syndrome type II. Eye. 1998; 12:353–7.

13. McCartney AC, Riordan-Eva P, Howes RC, Spalton DJ. Horner's syndrome: an electron microscopic study of a human iris. Br J Ophthalmol. 1992; 76:746–9.

14. Johnston MC, Noden DM, Hazelton RD, et al. Origins of avian ocular and periocular tissues. Exp Eye Res. 1979; 29:27–43.

15. Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan Med Surg. 1997; 16:15–23.

16. Fisch L. Deafness as part of an hereditary syndrome. J Laryngol Otol. 1959; 73:355–83.

17. Dastur YK, Dudhani A, Chitale A, Dasgupta S. Waardenburg syndrome with anisocoria and exotropia. J Postgrad Med. 1995; 41:111–2.