To describe ophthalmic manifestations of systemic amyloidosis, a group of devastating conditions.
A retrospective chart review including patients who had ocular examinations at Mayo Clinic between January 1, 1985, and April 1, 2014, and a diagnosis of light-chain (AL), secondary (AA), or nontransthyretin familial amyloidosis was undertaken. Sixty-eight patients with AL amyloidosis, eight patients with AA amyloidosis, and five patients with nontransthyretin familial amyloidosis were included.
Of 68 patients, 8 patients (14 eyes) with AL amyloidosis had ocular involvement secondary to conjunctiva, temporal artery, extraocular muscle, trabecular meshwork, and cranial nerve deposition. One of the five patients with nontransthyretin familial amyloidosis had gelsolin-related corneal dystrophy. No patients with AA amyloidosis (n = 8) had ophthalmic manifestations.
Systemic amyloidosis can lead to ocular morbidity. Patients with AL amyloidosis had involvement of the temporal artery, conjunctiva, extraocular muscles, trabecular meshwork, and cranial nerves. Those with gelsolin nontransthyretin familial amyloidosis were susceptible to corneal dystrophy. Patients with AA amyloidosis did not manifest ophthalmic involvement. Finally, if ocular amyloidosis is detected, patients should be referred for systemic workup.
Systemic amyloidosis can have associated ocular involvement. Light-chain amyloidosis can lead to involvement of the temporal artery, conjunctiva, extraocular muscles, trabecular meshwork, and cranial nerves. Gelsolin familial amyloidosis can lead to corneal dystrophy. Secondary amyloidosis does not typically cause ocular manifestations.
*Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota;
†Mayo Medical School, Mayo Clinic, Rochester, Minnesota;
‡Department of Hematology, Mayo Clinic, Rochester, Minnesota; and
§Department of Nephrology, Mayo Clinic, Rochester, Minnesota.
Reprint requests: Jose S. Pulido, MD, MBA, MPH, MS, Department of Ophthalmology and Department of Molecular Medicine, Mayo Clinic, 200 First Street, SW Rochester, MN 55905; e-mail: email@example.com
M. M. Reynolds: Vitreoretinal Surgery Foundation. M. A. Gertz: Ionis, Prothena, Celgene, Janssen, Research to Practice, Novartis, and Sandoz. A. Dispenzieri: Research dollars from Takeda, Janssen, Celgene, Alnylam, and Pfizer. J. S. Pulido: Research to Prevent Blindness; Lagen Laboratories associated with iPSC-RPE cells. The remaining authors have no conflicting interests to disclose.