Ocular Oncology Service, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania.
JAMA Ophthalmol. 2013 Sep;131(9):1167-73. doi: 10.1001/jamaophthalmol.2013.4190.
Waardenburg syndrome typically manifests with congenital iris pigmentary abnormalities, but careful inspection can reveal additional posterior uveal pigmentary abnormalities.
To demonstrate iris and choroidal hypopigmentation in patients with Waardenburg syndrome.
DESIGN, SETTING, AND PARTICIPANTS: Retrospective review of 7 patients referred for evaluation of presumed ocular melanocytosis.
To describe the clinical and imaging features of the anterior and posterior uvea.
In all patients, the diagnosis of Waardenburg syndrome was established. The nonocular features included white forelock in 4 of 7 (57%), tubular nose in 5 of 6 (83%), and small nasal alae in 5 of 6 (83%) patients. In 2 patients, a hearing deficit was documented on audiology testing. Family history of Waardenburg syndrome was elicited in 5 of 7 (71%) patients. Ocular features (7 patients) included telecanthus in 5 (71%), synophrys in 2 (29%), iris hypopigmentation in 5 (71%), and choroidal hypopigmentation in 5 (71%) patients. No patient had muscle contractures or Hirschsprung disease. Visual acuity was 20/20 to 20/50 in all patients. Iris hypopigmentation in 8 eyes was sector in 6 (75%) and diffuse (complete) in 2 (25%). Choroidal hypopigmentation in 9 eyes (100%) showed a sector pattern in 6 (67%) and a diffuse pattern in 3 (33%). Anterior segment optical coherence tomography revealed the hypopigmented iris to be thinner and with shallower crypts than the normal iris. Posterior segment optical coherence tomography showed a normal retina in all patients, but the subfoveal choroid in the hypopigmented region was slightly thinner (mean, 197 μm) compared with the opposite normal choroid (243 μm). Fundus autofluorescence demonstrated mild hyperautofluorescence (scleral unmasking) in hypopigmented choroid and no lipofuscin abnormality.
Waardenburg syndrome manifests hypopigmentation of the iris and choroid with imaging features showing a slight reduction in the thickness of the affected tissue.
瓦登伯格综合征通常表现为先天性虹膜色素异常，但仔细检查可以发现其他后葡萄膜色素异常。
展示瓦登伯格综合征患者的虹膜和脉络膜色素减退。
设计、设置和参与者：回顾性分析 7 例疑似眼黑色素瘤患者的评估。
描述前葡萄膜和后葡萄膜的临床和影像学特征。
所有患者均确诊为瓦登伯格综合征。非眼部特征包括 7 例中的 4 例（57%）有白色额发、6 例中的 5 例（83%）有管状鼻、6 例中的 5 例（83%）有小鼻翼。2 例患者在听力测试中发现听力缺陷。5 例中的 7 例（71%）有瓦登伯格综合征家族史。眼部特征（7 例）包括 5 例（71%）有内眦赘皮、2 例（29%）有眉连、5 例（71%）有虹膜色素减退、5 例（71%）有脉络膜色素减退。没有患者有肌肉挛缩或先天性巨结肠。所有患者的视力均为 20/20 至 20/50。8 只眼中的虹膜色素减退 6 只（75%）为扇形，2 只（25%）为弥漫性（完全性）。9 只眼中的脉络膜色素减退（100%）中，6 只（67%）呈扇形，3 只（33%）呈弥漫性。眼前节光学相干断层扫描显示色素减退的虹膜比正常虹膜更薄，隐窝更浅。所有患者的后节光学相干断层扫描均显示视网膜正常，但色素减退区的下脉络膜（平均 197μm）略薄于对侧正常脉络膜（243μm）。眼底自发荧光显示色素减退脉络膜有轻度高自发荧光（巩膜暴露），无脂褐素异常。
瓦登伯格综合征表现为虹膜和脉络膜色素减退，影像学特征显示受累组织厚度略有减少。
