Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
Am J Ophthalmol. 2018 Apr;188:164-172. doi: 10.1016/j.ajo.2018.01.037. Epub 2018 Feb 9.
To describe the ophthalmic, pathologic, and BRAF V600E mutation status of Rosai-Dorfman disease (RDD).
Retrospective case series.
A retrospective review of all cases of RDD seen at Mayo Clinic from 1992 to 2016 identified patients with ophthalmic manifestations (n = 8). Immunostain for BRAF and molecular studies for BRAF V600E mutation were performed on cases with tissue available.
Of 76 patients with RDD, 15 had eye examinations; of those, 8 (5 female and 3 male) had ophthalmic manifestations. In RDD patients with ophthalmic manifestations compared to RDD patients without ophthalmic manifestations, the respective median (range) age in years was 42 (15-70) and 56 (32-79) (P = .13) and median (range) logMAR visual acuity was 0.048 (0.000-1.824) and 0.000 (-0.124 to 0.301) (P = .19). Of the 8 patients with ophthalmic manifestations, 4 had ocular involvement and 4 had orbital masses. Patients with ocular involvement had multiorgan disease including tracheal, aortic, renal, skeletal, and soft tissue lesions (n = 4). Patients with orbital masses had no systemic involvement (n = 2), skeletal involvement only (n = 1), or multiorgan disease (n = 1). BRAF immunostaining and molecular studies were negative in all available specimens (n = 6).
In this series of patients with ophthalmic manifestations of RDD, those with ocular involvement had multiorgan disease while those with orbital masses had more limited systemic disease. Patients with ophthalmic manifestations tended to be younger and have worse visual acuity. Additionally, ophthalmic RDD does not seem to be associated with BRAF mutation.
描述罗萨达-多夫曼病（RDD）的眼部表现、病理表现和 BRAF V600E 突变状态。
回顾性病例系列。
对 1992 年至 2016 年在梅奥诊所就诊的所有 RDD 患者进行回顾性分析，确定有眼部表现的患者（n=8）。对有组织标本的病例进行 BRAF 免疫组化染色和 BRAF V600E 突变的分子研究。
在 76 例 RDD 患者中，有 15 例进行了眼部检查；其中 8 例（5 名女性和 3 名男性）有眼部表现。与无眼部表现的 RDD 患者相比，有眼部表现的 RDD 患者的中位（范围）年龄分别为 42（15-70）岁和 56（32-79）岁（P=0.13），中位（范围）logMAR 视力分别为 0.048（0.000-1.824）和 0.000（-0.124 至 0.301）（P=0.19）。有眼部表现的 8 例患者中，4 例有眼部受累，4 例有眼眶肿块。眼部受累的患者有多种器官疾病，包括气管、主动脉、肾脏、骨骼和软组织病变（n=4）。眼眶肿块的患者无系统受累（n=2）、仅有骨骼受累（n=1）或多器官疾病（n=1）。所有可获得的标本（n=6）的 BRAF 免疫组化染色和分子研究均为阴性。
在本系列有眼部表现的 RDD 患者中，眼部受累的患者有多器官疾病，而眼眶肿块的患者有更局限的系统性疾病。有眼部表现的患者更年轻，视力更差。此外，眼部 RDD 似乎与 BRAF 突变无关。
