Background

Waardenburg syndrome type I (WS-I) is a rare autosomal-dominant auditory-pigmentary disorder with limited reports in the Ophthalmic literature.

Materials and Methods

We describe the history, clinical findings and detailed retinal imaging (ultra-widefield fundus images, fundus autofluorescence and optical coherence tomography) from a patient with WS-I.

Case Description

Our patient had a history of white forelock and congenital hearing loss. Ophthalmic examination demonstrated iris heterochromia and highly asymmetric choroidal hypopigmentation, with generalised fundus hyperautofluorescence. Similarly, the patient’s mother demonstrated highly asymmetric fundus hypopigmentation. Genetic testing confirmed a pathogenic PAX3 nonsense variant.

Conclusion

Our report demonstrates that highly asymmetric choroidal hypopigmentation is within the clinical spectrum of WS-I.

Abbreviations

OCT: Optical coherence tomography; WS-I: Waardenburg syndrome type 1

中文翻译：

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患有I型Waardenburg综合征的儿子和母亲的脉络膜色素沉着不对称。

背景

Waardenburg综合征I型（WS-I）是一种罕见的常染色体显性听觉色素性疾病，在眼科文献中报道较少。

材料和方法

我们描述了来自WS-I患者的病史，临床发现和详细的视网膜成像（超宽眼底图像，眼底自发荧光和光学相干断层扫描）。

案例描述

我们的患者有白色前额性病和先天性听力下降的病史。眼科检查显示虹膜异色症和高度不对称脉络膜色素减退，并伴有眼底过度自发荧光。同样，患者的母亲表现出高度不对称的眼底色素沉着不足。基因测试证实了致病性PAX3废话。

结论

我们的报告表明，高度不对称的脉络膜色素沉着不足在WS-I的临床范围内。

缩略语

OCT：光学相干断层扫描；WS-I：Waardenburg综合征1型