Asymmetric preservation of choroidal pigmentation simulating choroidal nevus in two siblings with Waardenburg syndrome type 2A

ABSTRACT

Introduction

In addition to sensorineural hearing loss, Waardenburg Syndrome (WS) may present with variable pigmentation of skin and choroid, which may simulate other life-threating conditions (e.g. melanoma).

Case Report

Two siblings ostensibly presented with unilateral choroidal pigmentary abnormalities concerning for choroidal tumour. Serial ophthalmic examination documented no lesion growth (base or height) whilst the apparent syndromic features (i.e. iris hypochromia, profound sensorineural hearing loss, SNHL), family history (autosomal dominant inheritance) and positive genetic testing (pathogenic MITF variant) led to a revised diagnosis of Waardenburg Syndrome type 2A.

Conclusion

Sectoral preservation of choroidal pigmentation in WS is rarely associated with choroidal malignancy. Awareness of syndromic features (e.g. SNHL) and access to genetic testing may facilitate early accurate diagnosis (i.e. allay concern for malignancy), enable treatment of modifiable features (e.g. SNHL) and identify other affected relatives.

KEYWORDS:

• Waardenburg syndrome
• depigmentation
• sensorineural hearing loss
• choroidal pigmentation
• MITF gene

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Consent to publish

Written informed consent was provided from patients to publish their data anonymously.

Additional information

Funding

The author(s) reported that there is no funding associated with the work featured in this article.