Morphological and histopathological changes in gelatinous drop‐like corneal dystrophy during a 15‐year follow‐up
Morphological and histopathological changes in gelatinous drop‐like corneal dystrophy during a 15‐year follow‐up
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15年随访期间凝胶状水滴样角膜营养不良的形态学和组织病理学变化
DOI：
10.1111/j.1755-3768.2009.01708.x
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发表时间：
2010
影响因子：
3.4
通讯作者：
W. Saeger
中科院分区：
文献类型：
--
作者：
C. Uhlig;M. Groppe;H. Busse;W. Saeger
编辑：我们报告了一名来自土耳其的13岁女孩，她的近亲父母于1992年2月接受了左侧角膜刮削手术。组织活检显示特发性角膜病变，表现为中央糜烂斑，带状角膜病变表现为浅表透明丘疹状病变，非常靠近左眼8点钟位置突出的角膜缘血管。1994年3月准分子激光光治疗角膜切除术后，刮伤区域变得不透明。在8点钟位置出现越来越多的凝胶状液滴。1995年7月行非人白细胞抗原（HLA）匹配穿透性角膜移植术。新的液滴在缝合点处形成并向中心发展。1999年3月和2002年10月进行的两例非hla匹配的穿透性角膜移植术并没有阻止角膜混浊和从8点钟位置开始并沿着缝合通道延伸的凝胶状滴状物的发展。1993年10月首次观察到右眼周围4点钟位置的角膜上皮病变。病变变成凝胶状，在相同的钟点位置有突出的边缘血管（图1A， B），后来变得不透明和变平。视敏度（VA）由6 / 10降至6 / 20。1997年3月进行了全层非hla匹配角膜移植手术。新的液滴出现在同一时钟位置和缝合点，新生血管沿着移植物边缘发育（图1C）。在2000年4月和2003年2月分别进行了第二次非hla匹配和第三次hla匹配的全层角膜移植术，但在缝合点再次开始形成下降，特别是在缘血管增加的地方，VA下降到6 / 30。当受试者的13岁妹妹在2004年出现同样的症状时，基因分析证实TACSTD 2（肿瘤相关钙信号传感器2）突变是凝胶滴状角膜营养不良（GDLD）的原因。对右角膜的分析显示上皮部分变薄，鲍曼膜破坏，大量的上皮下淀粉样蛋白呈结节状或线状特征（图1D），与Gartry等人（1989）和Akhtar等人（2005）报道的特征相似。角膜基质受压水肿。活组织检查显示角膜上皮变薄，鲍曼膜未完全破坏，上皮下和间质有淀粉样蛋白沉积，部分呈带状排列，与Kanai和Kaufman（1982）的活组织检查报告相当。继发性（AA，单克隆小鼠抗人抗体，克隆mc1； Dako Deutschland GmbH，汉堡，德国）和家族性（ATTR，前白蛋白，多克隆兔抗人抗体；Dako A⁄S）淀粉样蛋白，lambda（小鼠单克隆抗体，HP-6054; Novocastra Laboratories Ltd, Newcastle upon Tyne，英国）和kappa （Rp-53; Novocastra Laboratories Ltd）轻链免疫阴性。在角膜边缘的一个下降区活检显示大
Editor, W e report a 13-year-old girl from Turkey with consanguineous parents who underwent a corneal scraping of her left cornea in February 1992. Histological biopsy revealed idiopathic keratopathy, which presented with a central erosive patch, and band keratopathy with superficial, transparent, papular lesions, very close to the accentuated limbal vessels at the 8 o’clock position in the left eye. After excimer laser phototherapeutic keratectomy in March 1994, the scraped area became opaque. Increasing numbers of gelatinous drops developed at the 8 o’clock position. A non-human leucocyte antigen (HLA)-matched penetrating keratoplasty was performed in July 1995. New areas of drops developed at the suture points and progressed towards the centre. Two non-HLA-matched penetrating keratoplasties performed in March 1999 and October 2002 did not prevent corneal opacification and the development of gelatinous drops beginning at the 8 o’clock position and extending along the suture channels. Corneal epithelial lesions in the right eye were first observed in October 1993 peripherally at the 4 o’clock position. The lesions became gelatinous, with accentuated limbal vessels at the same clock hour position (Fig. 1A, B), and later became opaque and flattened. Visual acuity (VA) decreased from 6 ⁄ 10 to 6 ⁄ 20. A fullthickness, non-HLA-matched corneal graft operation was performed in March 1997. New drops occurred at the same clock position and at the suture points, and neovascularization developed along the rim of the graft (Fig. 1C). A second non-HLA-matched and a third HLA-matched full-thickness keratoplasty were performed in April 2000 and February 2003, respectively, but drops again began to form at the suture points, especially where the limbal vessels had increased, and VA decreased to 6 ⁄ 30. When the subject’s 13-year-old sister presented with the same symptoms in 2004, genetic analysis confirmed a TACSTD 2 (tumour-associated calcium signal transducer 2) mutation as the cause of gelatinous drop-like corneal dystrophy (GDLD). Analysis of the right cornea showed a partially thinned epithelium, destruction of Bowman’s membrane and substantial amounts of subepithelial amyloid with nodular or string-like features (Fig. 1D), similar to features reported by Gartry et al. (1989) and Akhtar et al. (2005). The corneal stroma was compressed and oedematous. Biopsies revealed a thinned corneal epithelium with an incompletely destroyed Bowman’s membrane and subepithelial and stromal deposits of amyloid, partially arranged in a bandshaped manner, comparable with biopsy reports by Kanai & Kaufman (1982). Findings were immuno-negative for secondary (AA, monoclonal mouse antihuman, clone mc1; Dako Deutschland GmbH, Hamburg, Germany) and familial (ATTR, prealbumin, polyclonal rabbit antihuman; Dako A ⁄S) amyloid, and lambda (mouse monoclonal antibody, HP-6054; Novocastra Laboratories Ltd, Newcastle upon Tyne, UK) and kappa (Rp-53; Novocastra Laboratories Ltd) light chains. A biopsy from a drop area of the limbocorneal area revealed large
原发性家族性角膜淀粉样变性。
影响因子：
4.2
作者：
Mondino,BJ;Rabb,MF;Sugar,J;SundarRaj,CV;Brown,SI
通讯作者：
Brown,SI
两兄弟原发性带状角膜病和凝胶状水滴状角膜营养不良的电子显微镜研究。
影响因子：
--
作者：
Kanai,A;Kaufman,HE
通讯作者：
Kaufman,HE