Orbital lesion (pseudotumor and dacryoadenitis) is a manifestation of systemic sarcoidosis
* Impact factor according to the SCIENCE INDEX 2018
E.A. Burylova, L.A. Mamaeva, A.S. Berdnikova, O.K. Fedorova
Ural Scientific Research Institute of Phtysiopulmonology — Branch of the National Medical Research Center of Phtysiopulmonology, Yekaterinburg, Russian Federation
Ocular manifestations of systemic sarcoidosis may emerge at any disease stage. Ocular sarcoidosis is typically characterized by uveitic presentations that predominantly involve the choroid of anterior eye segment. However, orbital pseudotumor, dacryoadenitis, and other rare presentations (optic neuritis, dacryocystitis etc.) also occur in sarcoidosis. Threatened vision loss and poor quality of life are the reasons to prescribe systemic steroids in generalized sarcoidosis. Chest CT is required to identify respiratory diseases when sarcoidosis manifests as uveitis or granulomatous orbital inflammation. Multidisciplinary diagnostic and treatment approach to suspected sarcoidosis provides timely verified diagnosis and management strategy. This paper addresses case report of systemic sarcoidosis in a 34-year-old man. The initial manifestation was vision loss and left orbital pseudotumor. The enlarged subclavian lymph node and its biopsy were suspicious of granulomatous inflammation. Chest CT identified disseminated pulmonary lesions and intrathoracic lymphadenopathy that are typical of sarcoidosis. The results of multidisciplinary examina tions verified systemic sarcoidosis. Systemic steroids resulted in clinical and radiological improvement and medicinal regression of the disease.
Keywords: sarcoidosis, orbital pseudotumor, dacryoadenitis, adenopathy, computed tomography, multidisciplinary approach.
For citation: Burylova E.A., Mamaeva L.A., Berdnikova A.S., Fedorova O.K. Orbital lesion (pseudotumor and dacryoadenitis) is a manifestation of systemic sarcoidosis. Russian Journal of Clinical Ophthalmology. 2021;21(1):40–44. DOI: 10.32364/2311-7729-2021-21-1-40-44.
Sarcoidosis was firstly described by J. Hatchinson in 1877 as a skin disease. In the 2nd half of the 20th century, sarcoidosis patients were managed by phthisiatricians due to the similarity of the clinical presentation of bronchopulmonary disorder with tuberculosis. According to current conception, sarcoidosis is a systemic inflammatory disease of unknown cause characterized by the formation of non-caseating granulomas, multisystemic lesions of various organs, and T cell activation at the sites of granulomatous inflammation with the release of various chemokines and cytokines including tumor necrosis factor α .
Sarcoidosis occurs in different age groups, tends to spontaneous remission and recurrences after treatment and requires adequate therapy [1–3]. Progressive disease course (as diagnosed by X-ray and pulmonary functional tests), extrapulmonary manifestations including sight-threatening ocular involvement that affects the quality of life account for the prescription of systemic steroids as a first-line treatment for sarcoidosis [1, 3, 4].
Ocular involvement in sarcoidosis can manifest before the emergence of signs of systemic inflammation or during the disease and varies from 15% to 80% [5, 6]. Uveitis is the leading presentation of ocular sarcoidosis and accounts for 30-77.8% of all verified ocular localizations [6–8]. The anterior segment of the uveal tract is more commonly involved (52.5-75%) [5, 6] while posterior uveitis (25.3-31.3%)  occurs predominantly in elderly patients .
The involvement of the orbit and appendages in sarcoidosis is less common but also diverse. Orbital pseudotumor involving the lacrimal gland accounts for 27.7% of ocular sarcoidosis and 63% of orbital sarcoidosis [8, 9]. Meanwhile, isolated dacryoadenitis occurs in 14.8% and 55%, respectively [8, 10]. Orbital granulomatous inflammation not involving the lacrimal gland is less common (13-20%, according to various authors) [9, 10]. In addition, single reports on the retrobulbar involvement of the optic nerve, extraocular muscles , eyelids, and lacrimal sac  are available.
Systemic manifestations of sarcoidosis with ocular involvement are rather common (from 38% to 80%) [8, 9].
Meanwhile, further examination reveals other pathological localizations in half of patients with orbital sarcoidosis . Thus, chest CT identified asymptomatic pulmonary lesions and intrathoracic lymph node involvement of varying severity typical for sarcoidosis in 10% of patients with granulomatous uveitis  and nearly 100% of patients with orbital sarcoidosis [12–14].
Orbital tumors require an in-depth examination to rule out systemic process . The diagnosis and treatment of these patients should be provided by a multidisciplinary team of specialized caregivers depending on specific lesions.
This paper addresses a case report of multi-organ sarcoidosis manifested as visual disturbances and left orbital lesions. This case report is aimed at focusing the attention on the importance of a multidisciplinary approach to the diagnosis and treatment of orbital lesions.
A 34-year-old man was presented in the Ural Scientific Research Institute of Phtysio- pulmonology – Branch of the National Medical Research Center of Phtysiopulmonology on December 12, 2019.
At admission, the patient complained of diplopia that worsens when looking upward and left and at near, reduced vision in the left eye, narrow palpebral fissure, and left ptosis.
Anamnesis: the patient denies chronic diseases, TB or contact with patients withTB. No viral hepatitis, HIV, or sexually transmitted diseases was diagnosed. The patient denied smoking, drug and alcohol abuse. Chest X-ray was normal (2018).
In school years, high myopia of both eyes was diagnosed. In 1995, scleral reinforcement surgery was performed. Best-corrected visual acuity was 20/20 (OD: sph -14.00 D; OS: sph -9.00 D), the left eye was better than the right eye.
In March 2019, the patient first noticed diplopia and reduced vision in the left eye, narrow palpebral fissure, and left ptosis. In May 2019, the patient was diagnosed with high myopia of both eyes and suspected left orbital tumor. Orbital MRI and consultation with a hematologist were recommended. Brain and orbital MRI identified left orbital pseudotumor. In June 2016, the patient was diagnosed with diffuse unspecified non-Hodgkin lymphoma and unknown left orbital mass. PET-CT and CT (July 2019) revealed left lower lobe lesions, two subpleural lesions with increased metabolic activity, and intrathoracic lymphadenopathy (up to 19-24 mm).
In August 2019, the patient noticed a mass of the right clavicle. A biopsy of the right subclavicle lymph node performed in November 2019 revealed granulomatous lymphadenitis (morphological presentation corresponds to sarcoidosis, granulomatous sclerotic stage; TB is to be ruled out by clinical laboratory tests).
Chest X-ray (November 2019) revealed diffuse small focal disseminated lesions of lungs, diffuse enhancement and mesh-like deformation of lung pattern.
At referral (December 12, 2019), the patient was in fair condition. VA Dsc OD: 20/200 sph -14.00 = 20/25. VA Dsc OS: 20/200 sph -10.00 = 20/40. IOP OU = 18 mm Hg. Visual fields, and color vision are within normal ranges. OD: normal position within the orbit, normal eye movements. OS: downward displacement of the eye globe, restricted eye movement in all directions, diplopia that worsens when looking outwards, narrow palpebral fissure, ptosis (see Fig. 1A), lacrimal gland enlargement (see Fig. 1B). No signs of inflammation (uveitis) were revealed by slit lamp examination and dilated fundus examination.
Optical coherence tomography (OCT) revealed peripapillary retinal nerve fiber layer thickening and retinal thinning in the macular zone because of high myopia.
On December 16, 2019, the patient was admitted to the Ural Scientific Research Institute of Phtysio- pulmonology – Branch of the National Medical Research Center of Phtysiopulmonology. Preliminary diagnosis was as follows: Unspecified interstitial lung disease (sarcoidosis? tuberculosis?), suspected left-sided orbital and lacrimal of sarcoidosis.
Chest CT (December 16, 2019) revealed bilateral focal dissemination in all lung fields and lymphadenopathy of the upper part of the central mediastinum (worsening of lung lesions compared to July 12, 2019). Impression: progressive disseminated lung lesions, intrathoracic lymphadenopathy (see Fig. 2A, B).
Brain and orbital MRI (December 24, 2019) revealed a hypo/isointense lesion near the thickened tendon of the superior rectus muscle (normal appearance of soft tissues of the eyelid and around the lacrimal gland). Normal appearance of optic nerves. Impression: suspected myositic left orbital pseudotumor (see Fig. 3A).
On December 19, 2019, fibrobronchoscopy with transbronchial lung biopsy and bronchial biopsy were performed. Epithelioid cell granulomatous inflammation of the pulmonary tissue and necrosis in the center of one of the granulomas were identified by histology. Therefore, one needed to distinguish between productive tuberculosis and sarcoidosis with necrotic tissue reaction. No acid-resistant mycobacteria were detected by Ziehl–Neelsen staining in bronchoalveolar lavage fluid (December 19, 20, and 23, 2019). Tuberculosis skin test (December 20, 2019) was negative. Blood tests and urinalysis were within reference ranges.
No neurological disorders were diagnosed (January 13, 2020).
Given clinical presentation and examination results, the patient was diagnosed with multi-organ sarcoidosis (with the involvement of lungs, intrathoracic and peripheral lymph nodes, left orbit, and left lacrimal gland).
The patient was prescribed with 2.4% aminophylline (5 ml), dexamethasone (8 mg), saline 200 ml IV, and high-protein diet. Systemic steroids were started with methylprednisolone 28 mg daily (from December 26, 2019) and 27 mg daily (from February 10, 2020) and were further tapered (1 mg every 10 days) until the withdrawal.
Chest CT (February 25, 2020) demonstrated almost complete regression of small diffuse lesions in all lung fields and the reduction in the sizes of paratracheal, aortopulmonary, and bifurcation lymph nodes compared to December 16, 2019 (see Fig. 2C, D).
2-month treatment significantly improved clinical and radiological presentation. Brain and orbital MRI (February 06, 2020, see Fig. 3B) demonstrated normal thickness of the tendon of the left superior rectus muscle, eyelid and perilacrimal soft tissue was of similar signal intensity compared to the second eye (insignificant upper eyelid swelling).
On February 26, 2020, the patient underwent eye examination. He reported on vision improvement, however, discomfort and diplopia at near distance. VA Dsc OD: 20/200 sph -14.00 = 20/22. VA Dsc OS: 20/200 sph -10.00 = 20/22. IOP OU = 19 mm Hg. Visual fields, and color vision are within normal ranges. No red eyes but insignificant left palpebral fissure narrowing were detected. The normal position of the left eye, almost normal eye movements (insignificant limitations when looking outwards, see Fig. 1C). The volume of the left lacrimal gland reduced, its size and position were similar to those of the right lacrimal gland. Other ocular and OCT signs were similar compared to December 12, 2019.
The final diagnosis was as follows: acute sarcoidosis of the lungs and lymph nodes, therapeutic regression. Orbital sarcoidosis, left-sided dacryoadenitis, therapeutic regression. High myopia of both eyes. Respiratory insufficiency stage 0.
At discharge, the patient was recommended to be monitored by local pulmonologist or therapist and ophthalmologist and to proceed to treatment with methylprednisolone that was started on December 25, 2019 (28 mg daily) and tapered from February 10, 2020 (1 mg every 10 days) until the withdrawal.
This case report illustrates the development of multi-organ sarcoidosis with the initial manifestation of vision loss and left orbital lesion. The enlarged subclavian lymph node and biopsy were suspicious of granulomatous inflammation. Meanwhile, disseminated pulmonary lesions and intrathoracic lymphadenopathy were revealed by chest CT even earlier. Therefore, the diagnosis was verified and the treatment was started only 10 months after initial complaints.
Orbital lesions (including tumors) originate from various sources and are diagnostically challenging. Considering obvious clinical presentations and visual disturbances, primary referral to ophthalmologist is predictable. Orbital pseudotumors are a common manifestation of systemic multi-organ disease (including sarcoidosis). Suspicious sarcoidosis requires chest CT and pulmonologist counseling (irrespective of complaints and clinical presentations) to verify the diagnosis timely and to prescribe adequate treatment.
About the authors:
Elena A. Burylova — Cand. of Sci. (Med.), Leading Researcher, Group of the Coordination of Scientific Researches, ophthalmologist, ORCID iD 0000-0002-4440-4686;
Lyudmila А. Mamaeva — Cand. of Sci. (Med.), Head of the Clinical Laboratory Department, pulmonologist, ORCID iD 0000-0001-7070-8168;
Anna S. Berdnikova — Researcher of the Researching Clinical Division, radiologist of the Department of Radiological Diagnostics, ORCID iD 0000-0001-8330-9174;
Olga K. Fedorova — Head of the Department of Differential Diagnosis, pulmonologist, ORCID iD 0000-0002-6107-3524.
Ural Scientific Research Institute of Phtysio-pulmonology — Branch of the National Medical Research
Center of Phtysiopulmonology. 50, 22nd Parts’ezd str., Yekaterinburg, 620039, Russian Federation.
Contact information: Elena A. Burylova, e-mail: firstname.lastname@example.org. Financial Disclosure: no authors have a financial or property interest in any material or method mentioned. There is no conflict of interests. Received 07.07.2020.
2. Sarcoidosis. Ed. A.A. Vizel. M.: Atmospherа; 2010 (in Russ.).
3. Vizel A.A., Vizel I. Yu. Sarcoidosis: What We Know and What We Can. Prakticheskaya pul’monologiya. 2018;1:65–68 (in Russ.).
4. Vizel A.A., Vizel I. Yu. Understanding Principles and Goals of Sarcoidosis Treatment. Prakticheskaya pul’monologiya. 2016;3:50–54 (in Russ.).
5. Panova I.E., Varnavskaya N.G., Samkovich E.V. Ocular sarcoidosis as a clinical manifestation of multiorgan involvement. Vestnik oftalmologii. 2018;5(1):32–38 (in Russ.). DOI: 10.17116/oftalma201813405132.
6. Rothova A. Ocular involvement in sarcoidosis. BJO. 2000;84(1):110–116. DOI: 10.1136/bjo.84.1.110.
7. Groen-Hakan F., Eurelings L., Rothova A., van Laar J. Lymphopaenia as a predictor of sarcoidosis in patients with a first episode of uveitis. BJO. 2019;103(9):1296–1300. DOI: 10.1136/bjophthalmol-2018-313212.
8. Evans M., Sharma O., LaBree L. еt al. Differences in Clinical Findings between Caucasians and African Americans with Biopsy-Proven Sarcoidosis. Ophthalmology. 2007;114(2):325–333. DOI: 10.1016/j.ophtha.2006.05.074.
9. Demirci H., Christianson M.D. Orbital and adnexal involvement in sarcoidosis: Analysis of clinical features and systemic disease in 30 cases. Am J Ophthalmol. 2011;151(6):1074–1080. DOI: 10.1016/j.ajo.2010.12.011.
10. Mavrikakis I., Rootman J. Diverse Clinical Presentations of Orbital Sarcoid. Am J Ophthalmol. 2007;144(5):769–775. DOI: 10.1016/j.ajo.2007.07.019.
11. Clement D.S., Postma G., Rothova A. et al. Intraocular sarcoidosis: Association of clinical characteristics of uveitis with positive chest high-resolution computed tomography findings. BJO. 2010;94(2):219–222. DOI: 10.1136/bjo.2009.161588.
12. Kobak S., Topaloglu А., Öncel G., Karaarslan А. Sarcoidosis presenting as orbital pseudotumor. Reumatismo. 2015;67(2):78–81. DOI: 10.4081/reumatismo.2015.832.
13. Sassi S.H., Dhouib R., Kanchal F. et al. Orbital tumor revealing a systemic sarcoidosis. Acta Med Iran. 2015;53(3):195–197. PMID: 25796029.
14. Groen F., Rothova A. Ocular Involvement in Sarcoidosis. Semin Respir Crit Care Med. 2017;38(4):514–522. DOI: 10.1055/s-0037-1602382.
This work is licensed under a Creative Commons «Attribution» 4.0 License.