Pigment Distribution in Waardenburg's Syndrome: a New Hypothesis

Overview

Journal Graefes Arch Clin Exp Ophthalmol

Specialty Ophthalmology

Date 1986 Jan 1

PMID 3792843

Citations 4

Authors

T M Nork

Z M Shihab

R S Young

J Price

Affiliations

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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 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.

Citing Articles

Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Zhang L, Wan Y, Wang N J Med Case Rep. 2022; 16(1):264.

PMID: 35790984 PMC: 9258067. DOI: 10.1186/s13256-022-03460-1.

Ophthalmological features and treatments in five cases of Waardenburg syndrome.

Liu Y, Pan H, Wang J, Yao Q, Lin M, Ma B Exp Ther Med. 2020; 20(4):3072-3077.

PMID: 32855674 PMC: 7444341. DOI: 10.3892/etm.2020.9035.

Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

Akal A, Goncu T, Boyaci N, Yilmaz O BMJ Case Rep. 2013; 2013.

PMID: 24351514 PMC: 3888530. DOI: 10.1136/bcr-2013-201140.

Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.

Kashima T, Akiyama H, Kishi S Clin Ophthalmol. 2011; 5:1717-20.

PMID: 22205830 PMC: 3245192. DOI: 10.2147/OPTH.S27490.

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