Fang Fei, A Tingxi, Zhang Siyi, Chen Liangbo, Chen Junzhao, Lu Yang, Shao Chunyi, Fu Yao
Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Number 639, Zhizaoju Road, Shanghai, 200011, People's Republic of China.
Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai, People's Republic of China.
Ophthalmol Ther. 2025 Apr;14(4):643-657. doi: 10.1007/s40123-025-01100-7. Epub 2025 Feb 11.
This study characterized the ocular manifestations and associated pathological features in a large cohort of patients diagnosed with Goldenhar syndrome (GS).
Patients diagnosed with GS at the Department of Ophthalmology at Shanghai Ninth People's Hospital between 2014 and 2023 were retrospectively identified. Each patient underwent a standardized ophthalmological assessment and relevant tests. Epibulbar choristomas and eyelid colobomas were further categorized into different clinical groups, and their incidence rates and associated pathological features were evaluated.
A total of 72 patients diagnosed with GS (98 affected eyes) were included. The most prevalent ocular manifestations were epibulbar choristoma (94.44%) and upper eyelid coloboma (50%). Epibulbar choristomas were classified into four groups, with group II epibulbar choristomas being the most common (29.79%). The pathological features of the epibulbar choristomas varied significantly with location (p < 0.001): the choristomas located at the limbus were all dermoids (100%); lipodermoid was the most prevalent type located at the conjunctiva (40%); and dermoid was the predominant type of choristoma involving both the limbus and conjunctiva (50%), followed by lipodermoid (27.27%) and complex choristoma (22.73%). Upper eyelid colobomas were predominantly unilateral, with mild, moderate, and severe defects in 32.5%, 52.5%, and 15% of the cases, respectively. There was a significant coincidence and severity association between upper eyelid colobomas and epibulbar choristomas (p < 0.05).
Our study represents the largest reported case series of GS to date and highlights the prevalence of epibulbar choristomas and upper eyelid colobomas. While the predominant pathological type of epibulbar choristomas overall is dermoid, distinct pathological features have been correlated with their anatomic location or clinical group. Upper eyelid colobomas tended to be located on the inner side, often presenting as mild-to-moderate defects and frequently co-occurring with epibulbar choristomas.
本研究对一大群被诊断为Goldenhar综合征（GS）的患者的眼部表现及相关病理特征进行了描述。
回顾性纳入2014年至2023年期间在上海第九人民医院眼科诊断为GS的患者。每位患者均接受了标准化眼科评估及相关检查。对眼球表面的迷芽瘤和眼睑缺损进一步进行临床分组，并评估其发生率及相关病理特征。
共纳入72例诊断为GS的患者（98只患眼）。最常见的眼部表现为眼球表面迷芽瘤（94.44%）和上睑缺损（50%）。眼球表面迷芽瘤分为四组，其中II组眼球表面迷芽瘤最为常见（29.79%）。眼球表面迷芽瘤的病理特征因位置不同而有显著差异（p < 0.001）：位于角膜缘的迷芽瘤均为皮样瘤（100%）；位于结膜的迷芽瘤中，脂质皮样瘤最为常见（40%）；累及角膜缘和结膜的迷芽瘤以皮样瘤为主（50%），其次为脂质皮样瘤（27.27%）和复杂迷芽瘤（22.73%）。上睑缺损以单侧为主, 轻度、中度和重度缺损分别占32.5%、52.5%和15%。上睑缺损与眼球表面迷芽瘤之间存在显著的一致性和严重程度相关性（p < 0.05）。
我们的研究是迄今为止报道的最大规模的GS病例系列，突出了眼球表面迷芽瘤和上睑缺损的患病率。虽然眼球表面迷芽瘤的主要病理类型总体上是皮样瘤，但不同的病理特征与它们的解剖位置或临床分组相关。上睑缺损往往位于内侧，常表现为轻至中度缺损，并经常与眼球表面迷芽瘤同时出现。
