Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
Mayo Medical School, Mayo Clinic, Rochester, Minnesota.
Retina. 2018 Jul;38(7):1371-1376. doi: 10.1097/IAE.0000000000001901.
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.
描述系统性淀粉样变性的眼部表现，这是一组具有破坏性的疾病。
回顾性图表分析，纳入了在 1985 年 1 月 1 日至 2014 年 4 月 1 日期间在梅奥诊所进行眼部检查且诊断为轻链（AL）、继发性（AA）或非转甲状腺素蛋白家族性淀粉样变性的患者。共纳入 68 例 AL 淀粉样变性患者、8 例 AA 淀粉样变性患者和 5 例非转甲状腺素蛋白家族性淀粉样变性患者。
在 68 例患者中，8 例（14 只眼）AL 淀粉样变性患者的眼部受累继发于结膜、眼动脉、眼外肌、小梁网和颅神经沉积。5 例非转甲状腺素蛋白家族性淀粉样变性患者中，有 1 例存在凝溶胶蛋白相关性角膜营养不良。8 例 AA 淀粉样变性患者（n = 8）无眼部表现。
系统性淀粉样变性可导致眼部疾病。AL 淀粉样变性患者的眼动脉、结膜、眼外肌、小梁网和颅神经受累。非转甲状腺素蛋白家族性淀粉样变性患者易发生角膜营养不良。AA 淀粉样变性患者无眼部受累表现。最后，如果发现眼部淀粉样变性，应转至全身检查。
