TY - JOUR
T1 - Ophthalmologic Involvement in Adults with Histiocytic Disorders
T2 - Clinical Presentation and Treatment Outcomes
AU - Mayo Clinic-University of Alabama at Birmingham Histiocytosis Working Group
AU - Banks, Samantha A.
AU - Bhatti, M. Tariq
AU - Go, Ronald S.
AU - Abeykoon, Jithma P.
AU - Acosta-Medina, Aldo A.
AU - Hazim, Antonious Z.
AU - Goyal, Gaurav
AU - Young, Jason R.
AU - Koster, Matthew J.
AU - Vassallo, Robert
AU - Ryu, Jay H.
AU - Davidge-Pitts, Caroline J.
AU - Ravindran, Aishwarya
AU - Sartori Valinotti, Julio C.
AU - Bennani, N. Nora
AU - Shah, Mithun V.
AU - Rech, Karen L.
AU - Garrity, James A.
AU - Tobin, W. Oliver
N1 - Publisher Copyright:
© 2022 American Academy of Ophthalmology
PY - 2023/1
Y1 - 2023/1
N2 - Purpose: To evaluate the clinical presentation, treatment, and outcomes in adult patients with histiocytic disorders with ocular, orbital, optic nerve, or cavernous sinus involvement. Design: Observational, retrospective chart review. Participants: Adult patients (age ≥ 18 years) at Mayo Clinic from January 1, 1996, to July 1, 2021, with histiocytic disorders. Inclusion criteria were (1) histiocytic disorder by biopsy and appropriate clinical phenotype; (2) available medical records; and (3) ocular, orbital, optic nerve, or cavernous sinus involvement. Methods: Retrospective chart review. Main Outcome Measures: Response to therapy, measured in clinical and radiographic impact. Results: Thirty-two patients were identified: 7 with Langerhans cell histiocytosis (LCH); 15 with Erdheim-Chester disease (ECD); 1 with mixed LCH/ECD phenotype; 8 with Rosai-Dorfman disease (RDD); and 1 with mixed RDD/ECD phenotype. Ophthalmologic involvement was part of the initial presentation in 69% of patients (22/32). Eyelid edema (13/32, 41%) and proptosis (12/32, 38%) were the most frequent presentations. Isolated orbital or cavernous sinus involvement was present in 3 of 7 patients with LCH and 1 of 8 patients with RDD. Optic nerve sheath involvement was present in 2 of 7 LCH patients, 14 of 15 ECD patients, and 1 RDD/ECD patient. Diffuse (> 75%) orbital involvement was seen in 12 of 15 ECD patients and 1 of 7 LCH patients. Ocular involvement was seen in 1 of 15 ECD patients, 6 of 8 RDD patients, and 1 of 1 mixed RDD/ECD patient. The cavernous sinuses were involved in 1 of 7 LCH patients, 5 of 15 ECD patients, and both mixed phenotype patients. Visual acuity was affected in 14 patients (14/24, 58%) with a median logarithm of the minimum angle of resolution visual acuity of 0.1 (range, –0.12 to 3). BRAF V600E mutations were found in 75% (3/4) of LCH patients and 91% (10/11) of ECD patients. Patients received a variety of treatment, and response was variable across disease types. Conclusions: Orbital involvement was more commonly seen in LCH and ECD, whereas ocular involvement was more common in RDD. Visual acuity may be impacted from ocular involvement or compression of the optic nerve with diffuse orbital involvement.
AB - Purpose: To evaluate the clinical presentation, treatment, and outcomes in adult patients with histiocytic disorders with ocular, orbital, optic nerve, or cavernous sinus involvement. Design: Observational, retrospective chart review. Participants: Adult patients (age ≥ 18 years) at Mayo Clinic from January 1, 1996, to July 1, 2021, with histiocytic disorders. Inclusion criteria were (1) histiocytic disorder by biopsy and appropriate clinical phenotype; (2) available medical records; and (3) ocular, orbital, optic nerve, or cavernous sinus involvement. Methods: Retrospective chart review. Main Outcome Measures: Response to therapy, measured in clinical and radiographic impact. Results: Thirty-two patients were identified: 7 with Langerhans cell histiocytosis (LCH); 15 with Erdheim-Chester disease (ECD); 1 with mixed LCH/ECD phenotype; 8 with Rosai-Dorfman disease (RDD); and 1 with mixed RDD/ECD phenotype. Ophthalmologic involvement was part of the initial presentation in 69% of patients (22/32). Eyelid edema (13/32, 41%) and proptosis (12/32, 38%) were the most frequent presentations. Isolated orbital or cavernous sinus involvement was present in 3 of 7 patients with LCH and 1 of 8 patients with RDD. Optic nerve sheath involvement was present in 2 of 7 LCH patients, 14 of 15 ECD patients, and 1 RDD/ECD patient. Diffuse (> 75%) orbital involvement was seen in 12 of 15 ECD patients and 1 of 7 LCH patients. Ocular involvement was seen in 1 of 15 ECD patients, 6 of 8 RDD patients, and 1 of 1 mixed RDD/ECD patient. The cavernous sinuses were involved in 1 of 7 LCH patients, 5 of 15 ECD patients, and both mixed phenotype patients. Visual acuity was affected in 14 patients (14/24, 58%) with a median logarithm of the minimum angle of resolution visual acuity of 0.1 (range, –0.12 to 3). BRAF V600E mutations were found in 75% (3/4) of LCH patients and 91% (10/11) of ECD patients. Patients received a variety of treatment, and response was variable across disease types. Conclusions: Orbital involvement was more commonly seen in LCH and ECD, whereas ocular involvement was more common in RDD. Visual acuity may be impacted from ocular involvement or compression of the optic nerve with diffuse orbital involvement.
KW - Cavernous sinus
KW - Histiocytosis
KW - Optic nerve
KW - Visual acuity
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U2 - 10.1016/j.ophtha.2022.07.031
DO - 10.1016/j.ophtha.2022.07.031
M3 - Article
C2 - 35932838
AN - SCOPUS:85139033919
SN - 0161-6420
VL - 130
SP - 77
EP - 86
JO - Ophthalmology
JF - Ophthalmology
IS - 1
ER -