Abstract：
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■除了感音神经性听力损失，Waardenburg综合征（WS）可能表现为皮肤和脉络膜的色素沉着，这可以模拟其他威胁生命的条件（例如黑素瘤）。
■两个兄弟姐妹表面上表现为单侧脉络膜色素异常，涉及脉络膜肿瘤。连续眼科检查记录没有病变生长（基础或高度），而明显的综合征特征（即虹膜低色素，严重的感觉神经性听力损失,SNHL),家族史（常染色体显性遗传）和阳性基因检测（致病性MITF变异）导致Waardenburg综合征2A型的修订诊断。
■在WS中保留脉络膜色素沉着很少与脉络膜恶性肿瘤相关。了解综合征特征（例如SNHL）和获得基因检测可能有助于早期准确诊断（即减轻对恶性肿瘤的关注）。能够治疗可修改的特征（例如SNHL）并识别其他受影响的亲属。
■两个兄弟姐妹表面上表现为单侧脉络膜色素异常，涉及脉络膜肿瘤。连续眼科检查记录没有病变生长（基础或高度），而明显的综合征特征（即虹膜低色素，严重的感觉神经性听力损失,SNHL),家族史（常染色体显性遗传）和阳性基因检测（致病性MITF变异）导致Waardenburg综合征2A型的修订诊断。
■在WS中保留脉络膜色素沉着很少与脉络膜恶性肿瘤相关。了解综合征特征（例如SNHL）和获得基因检测可能有助于早期准确诊断（即减轻对恶性肿瘤的关注）。能够治疗可修改的特征（例如SNHL）并识别其他受影响的亲属。
