Background/aims Ocular manifestations of histiocytosis and their genetic underpinnings are poorly characterised. This study characterises ocular sites of histiocytosis, notate genetic alterations and correlates to histiocytosis clinical features including subtype and sites of disease. Methods Prospective registry-based study of predominantly adult histiocytosis patients at a single-institution tertiary referral centre. 180 eyes of 90 patients (46 males, 44 females) with histiocytosis (Erdheim-Chester disease 34, Rosai-Dorfman 20, xanthogranuloma 7, mixed histiocytosis 13, Langerhans cell histiocytosis (LCH) 15, ALK-positive histiocytosis 1). Ocular findings were categorised by the structure involved. Histiocytosis subtype, sites of disease and genetic status were correlated to ocular findings. Results Ocular disease was present in more than half the histiocytosis patient cohort and occurred with other disease sites. Ocular findings were statistically significantly different across histiocytic subtypes with LCH subtypes having the lowest proportion of ocular findings (7%) and all other subtypes having rates of ocular findings which were five times that of patients with LCH (p=0.0009). Of patients with ocular findings, 41% of patients reported ocular symptoms and were significantly more in the group with ocular disease present versus those patients without ocular involvement. The presence of ocular findings was not statistically different by BRAF V600E, MAP2K1 or RAS isoform mutational status. Conclusions Ocular disease is a common feature of histiocytosis with significant visual symptomatology and occurrence in tandem with multisystem sites. Ocular findings vary by histiocytic subtype. The mutational profile of the cohort reflects known mutations in this clinical population, with no specific driver mutation associated with ocular disease. Data are available on reasonable request. Data are available on reasonable request via email to the first author.

中文翻译：

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组织细胞增多症患者的眼部表现及其与临床和分子特征的相关性


背景/目标 组织细胞增多症的眼部表现及其遗传基础特征不佳。本研究表征了组织细胞增多症的眼部部位，记录了遗传改变并与组织细胞增多症临床特征相关，包括亚型和疾病部位。方法 在单一机构三级转诊中心对主要为成人组织细胞增多症患者进行前瞻性登记研究。90 名组织细胞增多症患者（46 名男性，44 名女性）的 180 只眼（Erdheim-Chester 病 34 例，Rosai-Dorfman 20 例，黄色肉芽肿 7 例，混合性组织细胞增多症 13 例，朗格汉斯细胞组织细胞增多症 （LCH） 15 例，ALK 阳性组织细胞增多症 1 例）。眼部发现按所涉及的结构进行分类。组织细胞增多症亚型、疾病部位和遗传状态与眼部表现相关。结果 超过一半的组织细胞增多症患者队列中存在眼部疾病，并发生在其他疾病部位。组织细胞亚型的眼部发现差异有统计学意义，其中 LCH 亚型的眼部发现比例最低 （7%），所有其他亚型的眼部发现率是 LCH 患者的五倍 （p=0.0009）。在有眼部表现的患者中，41% 的患者报告了眼部症状，与没有眼部受累的患者相比，存在眼部疾病的患者明显更多。BRAF V600E、MAP2K1 或 RAS 亚型突变状态对眼部发现的存在没有统计学差异。结论 眼部疾病是组织细胞增多症的常见特征，具有显著的视觉症状，与多系统部位同时发生。眼部表现因组织细胞亚型而异。 该队列的突变概况反映了该临床人群中的已知突变，没有与眼部疾病相关的特定驱动突变。数据可应合理要求提供。如有合理要求，可通过电子邮件向第一作者提供数据。