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Ptosis from Localized Al-amyloid Deposits in the Levator Palpebrae Muscle

1Dithmar S., 2Helmke B., 3Linke R. P., 4Kolling G., 1Völcker H. E.,
1Ruprecht-Karls-Universität Heidelberg, Universitäts-Augenklinik (Heidelberg)
2Ruprecht-Karls-Universität Heidelberg, Pathologisches Institut (Heidelberg)
3Max-Plank-Institut für Biochemie (Martinsried)
4Ruprecht-Karls-Universität Heidelberg, Universitäts-Augenklinik, Sektion für Schielbehandlung und Neuroophthalmologie (Heidelberg)

Purpose: Amyloidosis is characterized by protein deposition in tissue of a single or multiple organs with or without underlying systemic disease. The nomenclature and classification of amyloid is based on the fibril protein found in the deposit. Several different subunit proteins have been identified in various amyloid diseases. This case describes localized Al -amyloid deposits in the levator muscle causing unilateral ptosis. Clinically visible conjunctival amyloid deposits did not appear until several years after initial presentation, which made the diagnosis more difficult.
Case report: A 32-year-old otherwise healthy female presented with right-sided unilateral ptosis. Past ocular and medical histories were unremarkable. No other ocular abnormalities could be found, with normal neurologic and neuroradiologic examinations. Palpebral fissures measured 5 mm 8 mm on the right and left sides, respectively. Additionally, conjunctival and intraocular findings were unremarkable. A systemic check-up revealed no abnormalities using numerous examinations, including tests for myasthenia, neurologic and neuroradiologic diseases, with the etiology of the ptosis remaining unknown. Several years after initial presentation, conjunctival deposits appeared, which histologically proved to consist of amyloid. Ptosis surgery with resection of the levator muscle was then performed revealing massive deposits of Al -amyloid in biopsy tissue.
Conclusions: This case describes unilateral ptosis without clinically detectable amyloid deposits within the conjunctiva or elsewhere at initial presentation. Visible conjunctival deposits developed only years after the onset of the ptosis requiring several years for appropriate diagnosis. Ocular amyloidosis, with isolated involvement of the levator muscle as first manifestation, is an exceptionally rare condition. We are aware of only two case reports, in which resected levator muscle was shown to be infiltrated with amyloid (Liesegang 1983; Richlin 1962).