Uveal Hypopigmentation Revealing Waardenburg Syndrome

This case report discusses a clinical diagnosis of Waardenburg syndrome type II in a woman aged 69 years who presented with bilateral iris and choroidal hypopigmentation and hyperpigmentation and a history of congenital deafness, iris heterochromia, and a gray hair patch since birth.

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Publication Details

Journal
JAMA Ophthalmology
Published
2026-09-10
DOI
https://doi.org/10.1001/jamaophthalmol.2026.3756
Primary Topic
Ocular Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Uveal Hypopigmentation Revealing Waardenburg Syndrome

Salaam Botros, Antonio Bechara Ghobril, Carol L. Shields
JAMA Ophthalmology
Ocular Disorders and Treatments
article

Uveal Hypopigmentation Revealing Waardenburg Syndrome

Salaam Botros, Antonio Bechara Ghobril, Carol L. Shields
article en

Abstract

This case report discusses a clinical diagnosis of Waardenburg syndrome type II in a woman aged 69 years who presented with bilateral iris and choroidal hypopigmentation and hyperpigmentation and a history of congenital deafness, iris heterochromia, and a gray hair patch since birth.

JAMA Ophthalmology
Wills Eye Hospital (US)
Gender equality
Openalex Percentile: Top 11%
Ocular Disorders and Treatments
DOISourceOpenAlex
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