Slowly Progressive Unilateral Blepharoptosis: clinical manag
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A healthy 37-year-old woman presented for evaluation of left upper eyelid blepharoptosis that had been slowly worsening for several years. The patient was otherwise asymptomatic, and a complete review of systems was negative. The results of her physical examination were notable for left-sided blepharoptosis with a palpable mass of the upper eyelid laterally. Eyelid eversion examination findings showed a yellow nodular lesion along the tarsal conjunctiva. An incisional biopsy was performed. Histopathologic examination results showed amorphous acellular proteinaceous deposits that positively stained with Congo red. Polarized microscopy of the deposits showed apple-green birefringence.

Ocular and periocular amyloid can manifest as conjunctival masses, orbital masses, cranial neuropathies, gelsolin-type lattice corneal dystrophy, vitreous opacities, chorioretinal lesions, and temporal arteritis. Ocular manifestations vary by subtype of amyloid; the rate of ocular involvement in light chain amyloid has been reported at 11.8%, compared with 20% for transthyretin amyloid and 0% for amyloid A subtype. Conjunctival amyloidosis accounts for less than 0.002% of all conjunctival lesions.

It presents as a yellow-pink waxy mass on the bulbar or palpebral conjunctiva. Up to a third of patients have associated blepharoptosis or recurrent subconjunctival hemorrhages. Systemic involvement in conjunctival amyloidosis is uncommon, with an incidence of 12% to 15%. It has been reported to occur in both light chain and amyloid A subtypes. Ocular amyloidosis can precede systemic involvement in 7% of patients with light chain amyloidosis. Consequently, amyloid subtyping and screening for systemic amyloidosis are recommended. Amyloid subtyping is performed using immunohistochemical stains on tissue samples.

The best next step after diagnosing periocular amyloidosis is to initiate amyloid subtyping and systemic evaluation to identify potentially life-threatening systemic involvement. Treatment of systemic amyloidosis involves treating the underlying plasma cell dyscrasia or inflammatory disease to stop the production of excess protein. For hereditary causes, treatment involves organ transplants. In addition, treatment is directed at managing the sequelae of systemic organ involvement. Excision and radiotherapy have been described for symptomatic orbital and conjunctival lesions, but should only be attempted once the systemic disease has been ruled out. Moreover, 40% to 50% of lesions recur if excised despite treatment with adjunctive cryotherapy. Cryotherapy treatment is used as an adjunct to surgery but should not be performed until the systemic disease has been treated. For minimally symptomatic patients with isolated periocular orbital or conjunctival amyloidosis, observation is recommended; however, the systemic disease must be ruled out first.

Patient Outcome Amyloid subtyping in this patient revealed λ light chain amyloid. The patient underwent a full workup, results of which did not reveal any evidence of systemic amyloidosis. Follow-up ophthalmologic examination year later revealed a new irregular elevated lesion of the right upper palpebral conjunctiva, which is being observed. She is followed up annually in ophthalmology and amyloid clinics.

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