Stephenson Kirk A J, Paton Katherine E, Gregory-Evans Cheryl Y, Gregory-Evans Kevin
Department of Ophthalmology & Visual Sciences, University of British Columbia, Vancouver, Canada.
Ophthalmic Genet. 2024 Oct;45(5):494-498. doi: 10.1080/13816810.2024.2357307. Epub 2024 Jun 10.
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).
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 variant) led to a revised diagnosis of Waardenburg Syndrome type 2A.
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.
除了感音神经性听力损失外，瓦登伯革氏综合征（WS）可能还伴有皮肤和脉络膜色素沉着变化，这可能会被误诊为其他危及生命的疾病（如黑色素瘤）。
两名兄弟姐妹表面上表现为单侧脉络膜色素沉着异常，疑似脉络膜肿瘤。系列眼科检查记录显示病变（基底或高度）无生长，而明显的综合征特征（即虹膜色素减退、重度感音神经性听力损失，SNHL）、家族史（常染色体显性遗传）以及基因检测阳性（致病变异）导致修正诊断为2A型瓦登伯革氏综合征。
WS中脉络膜色素沉着的扇形保留很少与脉络膜恶性肿瘤相关。了解综合征特征（如SNHL）并进行基因检测有助于早期准确诊断（即消除对恶性肿瘤的担忧），能够对可改变的特征（如SNHL）进行治疗，并识别其他受影响的亲属。
