Department of Ophthalmology, Saarland University Medical Center, Homburg/Saar, Germany.
Institute of Pathology, Saarland University Medical Center, Homburg/Saar, Germany; and.
Cornea. 2024 Nov 1;43(11):1427-1430. doi: 10.1097/ICO.0000000000003671. Epub 2024 Aug 22.
To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis.
Case report.
A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both corneas for approximately 20 years. The patient had undergone penetrating keratoplasty (PKP) on the right eye 6 years ago. Ophthalmologic examination revealed decreased VA in both eyes (OD: 0.05, OS: 0.3), and even further reduced glare VA (OD: 0.05, OS: 0.1), diffuse whitish corneal opacity involving the total thickness of the corneal stroma without crystalline deposits, and a marked peripheral diffuse arcus. Systemic examination revealed severely reduced plasma high-density lipoprotein cholesterol levels, target cells in blood smear, and chronic normochromic anemia. Clinically, LCAT deficiency was the most likely diagnosis. Further genetic analysis confirmed the diagnosis. The patient is homozygous for the novel variant c.943T>C (p.Trp315Arg) in the LCAT gene. Histologic examination of the cornea removed during the first keratoplasty revealed amyloid deposits. The cornea removed at the second keratoplasty had small vacuoles in the anterior stroma, indicating recurrence of lipid deposition.
LCAT deficiency is a rare genetic disorder that can cause corneal opacities because of lipid deposition in the cornea. Systemic manifestations may help in the differential diagnosis to other diseases associated with severe high-density lipoprotein cholesterol reduction. Genetic analysis is employed to confirm the diagnosis. Some mutations in the LCAT gene seem to be associated with secondary corneal amyloidosis. Further investigation of this association is warranted. A recurrence of corneal opacity after PKP seems to occur mainly in the anterior corneal stroma.
介绍 1 例由 LCAT 基因新型遗传变异引起的家族性卵磷脂-胆固醇酰基转移酶 (LCAT) 缺乏症患者的眼部临床、组织学、全身和遗传表现，该变异与继发性角膜淀粉样变性有关。
病例报告。
一名 74 岁女性因双眼视力下降（VA）、畏光和双侧角膜进行性变白约 20 年就诊。患者 6 年前曾因右眼进行穿透性角膜移植术（PKP）。眼科检查发现双眼 VA 下降（OD：0.05，OS：0.3），眩光 VA 进一步降低（OD：0.05，OS：0.1），弥漫性白色角膜混浊累及角膜基质的总厚度，无晶状体沉积物，明显的周边弥漫性弧形混浊。全身检查发现血浆高密度脂蛋白胆固醇水平严重降低，血涂片可见靶细胞，慢性正细胞正色素性贫血。临床上，最有可能的诊断是 LCAT 缺乏症。进一步的基因分析证实了这一诊断。患者在 LCAT 基因中纯合携带新型变异 c.943T>C（p.Trp315Arg）。第一次角膜移植时切除的角膜组织学检查显示有淀粉样沉积物。第二次角膜移植时切除的角膜前基质中有小空泡，表明脂质沉积再次发生。
LCAT 缺乏症是一种罕见的遗传性疾病，可因角膜脂质沉积导致角膜混浊。全身表现有助于与其他与严重高密度脂蛋白胆固醇降低相关的疾病进行鉴别诊断。基因分析用于确诊。LCAT 基因的一些突变似乎与继发性角膜淀粉样变性有关。进一步研究这种相关性是必要的。PKP 后角膜混浊的复发似乎主要发生在前部角膜基质。
