Abstract
Two cases of Waardenburg's syndrome are presented. The first case is an example of Waardenburg's type II (without dystopia canthorum) with bilateral sectoral iris heterochromia and fundus bicolor, hyperpigmented skin patches, characteristic fades and deafness. The second case is an example of Waardenburg's type I (with dystopia canthorum) with complete iris heterochromia and characteristic facies. Bilateral glaucoma was also present in the second case. Previously unrecognized details of iris architecture in Waardenburg's syndrome are described. Pigmentation anomalies of the skin are also discussed. It is hypothesized that the ocular pigmentary disturbance in Waardenburg's syndrome is widespread and involves the hyperchromic as well as the hypochromic areas of the eyes. A possible association with glaucoma might be explained by such a hypothesis.
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Arias S (1971) Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 7: 87–101
Bard LA (1978) Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. Arch Ophthalmol 96: 1193–1198
Delleman JW, Hageman MJ (1978) Ophthalmological findings in 34 patients with Waardenburg's syndrome. J Pediat Ophthalmol Strabismus 15: 341–345
DiGeorge AM, Olmsted RW, Harley RD (1960) Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects. J Pediat 57: 649–669
Doherty WB (1927) Cases of melanosis oculi, with microscopic findings. Am J Ophthalmol 10: 1–7
Ellis RWB (1931) Heterochromia of irides and hair. Proc R Soc Med 24: 1057
Fisch L (1959) Deafness as part of an hereditary syndrome. J Laryngol Otol 73: 355–382
Fishman GRA, Anderson R (1962) Nevus of Ota. Report of two cases, one with open-angle glaucoma. Am J Ophthalmol 54: 453–457
Foulks GN, Shields BM (1977) Glaucoma in oculodermal melanocytosis. Ann Ophthalmol 9: 1299–1304
Francois J (1982) Waardenburg Lecture. In Ophthalmol 1: 3–13
Goldberg MF (1966) Waardenburg's syndrome with fundus and other anomalies. Arch Ophthalmol 76: 797–810
Hageman MJ (1977) Audiometric findings in 34 patients with Waardenburg's syndrome. J Laryngol Otol 91: 575–584
Hageman MJ (1980) Heterogeneity of Waardenburg syndrome in Kenyan Africans. Metab Pediatr Syst Ophthalmol 4: 183–184
Hageman MJ, Delleman JW (1977) Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29: 468–485
Lian KC, Ju CA, Hou KT (1968) A Chinese family with Waardenburg's syndrome. Am J Ophthalmol 65: 174–178
Ota M (1939) Nevus fusco-caeruleus ophthalmomaxillaris. Tokyo Med J 63: 1243–1245
Ozanics V, Jakobiec FA (1982) Prenatal development of the eye and its adnexa. In: Jakobiec FA (ed) Ocular anatomy, embryology and teratology. Harper and Row, Philadelphia, p 11
Partington MW (1964) Waardenburg's syndrome and heterochromia iridum in a deaf school population. Can Med Assoc J 90: 1008–1017
Reed WB, Boder E (1967) Pigmentary disorders in association with congenital deafness. Arch Dermatol 95: 176–186
Waardenburg PJ (1951) 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 3: 195–253
Weiss DI, Krohn DL (1971) Benign melanocytic glaucoma complicating oculodermal melanocytosis. Ann Ophthalmol 3: 958–963
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This work was supported in part by Research to Prevent Blindness, Inc., New York, New York, and by Grant No. 5 RO1 EY02157-02, from the National Eye Institute, National Institutes of Health, and the Veterans Administration
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Nork, T.M., Shihab, Z.M., Young, R.S.L. et al. Pigment distribution in Waardenburg's syndrome: a new hypothesis. Graefe's Arch Clin Exp Ophthalmol 224, 487–492 (1986). https://doi.org/10.1007/BF02154734
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DOI: https://doi.org/10.1007/BF02154734