Abstract
INTRODUCTION: This study characterized the ocular manifestations and associated pathological features in a large cohort of patients diagnosed with Goldenhar syndrome (GS). METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.