Intraocular amyloidosis presenting with secondary glaucoma: a clinical-pathologic report and literature review

Amyloid can deposit in nearly all ocular tissues, and it should be suspected when common ophthalmological presentations do not respond appropriately to standard medical therapies. The challenge in this case was that the anterior segment examination was unremarkable, which is a relatively uncommon presentation for secondary glaucoma in the setting of intraocular amyloidosis. Furthermore, unlike the vast majority of cases of glaucoma associated with intraocular amyloidosis reported to date, our patient had no family history of amyloidosis, nor was any evidence of systemic amyloidosis found upon screening. Literature review, however, establishes that vitreous amyloidosis is invariably associated with a hereditary transthyretin (TTR) mutation, even in the relatively uncommon cases presenting without any known family history and without any systemic symptoms. In the appropriate circumstances, a low threshold to biopsy is appropriate.