Pigment distribution in Waardenburg's syndrome: a new hypothesis.
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 facies 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.
D000015:Abnormalities, Multiple / Q000378:metabolism*; D000293:Adolescent; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010860:Pigments, Biological / Q000378:metabolism; D012168:Retinal Pigments / Q000378:metabolism*; D012867:Skin / Q000378:metabolism / Q000473:pathology; D014849:Waardenburg Syndrome / Q000378:metabolism* / Q000473:pathology
D010860:Pigments, Biological; D012168:Retinal Pigments