[Clinical, radiological, pathological features, treatment and follow-up of periocular and/or orbital amyloidosis: Report of 6 cases and literature review]

Purpose: To assess demographic, clinical, radiological, pathological features, treatment and follow-up of periocular or/and orbital amyloidosis.

Patients and methods: We conducted an observational retrospective monocentric study from January 2004 to April 2017 in patients diagnosed with histologically proven periocular or/and orbital amyloidosis.

Results: Six patients were included (2 females, 4 males). Mean age was 76.8 years (range 66-88 years). Mean time between first ophthalmological symptoms and diagnosis was 27 months (range 11-36 months). The main symptoms were subconjunctival infiltration (6 patients; 100%), periocular pain or discomfort (4 patients; 66.6%) and subconjunctival hemorrhage (1 patient; 16.6%). Clinical findings included ptosis (4 patients; 66.6%), keratitis (3 patients; 50%) leading to corneal perforation in one patient, and proptosis (3 patients; 50%). One-half of the patients showed bilateral involvement. AL amyloidosis was identified on immunohistochemistry in 5 patients (83.3%). One case of B cell marginal zone orbital lymphoma was diagnosed. Systemic work-up was negative for all patients. Treatment consisted of simple monitoring (1 patient; 16.6%), surgical debulking (3 patients; 50%), ptosis surgery (1 patient; 16.6%), eyelid or eyelash malposition surgery (2 patients; 33.3%) and orbital radiation beam therapy (2 patients; 33.3%). Mean follow-up was 14.6 months (range 6-36 months), and no progression nor recurrence were noted.

Conclusion: Periocular or/and orbital amyloidosis is rarely encountered. Diagnosis is based on pathological examination, and immunohistochemistry analysis should always be performed to guide systemic work-up. Orbital lymphoma and multiple myeloma should be ruled out if AL amyloidosis is diagnosed. Progression is slow, and surgery is the mainstay of treatment in symptomatic patients. Long-term multidisciplinary follow-up is advocated.