Viestenz Arne, Schlötzer-Schrehardt Ursula, Hofmann-Rummelt Carmen, Seitz Berthold, Küchle Michael
Department of Ophthalmology, University Eye Hospital, University of Erlangen-Nürnberg, Erlangen, Germany.
Cornea. 2002 Nov;21(8):834-7. doi: 10.1097/00003226-200211000-00022.
Lecithin-cholesterol acyltransferase (LCAT) deficiency is a rare entity. This dyslipoproteinemia may lead to corneal opacity, renal failure, and arteriosclerosis.
Presentation of a 66-year-old man with bilateral corneal opacification due to LCAT deficiency caused by a single-nucleotide exchange in codon 123 of gene. An extracapsular cataract extraction combined with full-thickness corneal transplantation was performed. The corneal specimen was analyzed by light and transmission electron microscopy.
All stromal layers showed extracellular vacuoles with acid mucopolysaccharide contents measuring up to 2.5 microm. Amyloid deposits measuring up to 12 microm in diameter were detected in the stroma and especially predescemetally.
To our knowledge, this is the first histologic description of secondary amyloidosis in a full-thickness corneal specimen with LCAT deficiency. The disease is associated with anemia, proteinuria, a lack of plasma high-density lipoprotein, and the presence of target cells. Bilateral corneal opacification is a characteristic of the disease and may allow early detection of homozygous LCAT deficiency by the ophthalmologist.
卵磷脂胆固醇酰基转移酶（LCAT）缺乏症是一种罕见病症。这种血脂蛋白异常血症可能导致角膜混浊、肾衰竭和动脉硬化。
报告一名66岁男性，因基因第123密码子的单核苷酸交换导致LCAT缺乏，出现双侧角膜混浊。实施了囊外白内障摘除术联合全层角膜移植术。对角膜标本进行了光学显微镜和透射电子显微镜分析。
所有基质层均显示细胞外空泡，酸性粘多糖含量高达2.5微米。在基质中，尤其是后弹力膜前，检测到直径达12微米的淀粉样沉积物。
据我们所知，这是首次对LCAT缺乏症全层角膜标本中的继发性淀粉样变性进行组织学描述。该疾病与贫血、蛋白尿、血浆高密度脂蛋白缺乏以及靶细胞的存在有关。双侧角膜混浊是该疾病的特征，眼科医生可据此早期发现纯合子LCAT缺乏症。
