角膜后弹力层前角膜营养不良的结晶亚型
Crystalline subtype of pre-descemetic corneal dystrophy.
作者信息
Dolz-Marco Rosa, Gallego-Pinazo Roberto, Pinazo-Durán María Dolores, Díaz-Llopis Manuel
机构信息
Department of Ophthalmology, University and Polytechnic Hospital La Fe, Valencia, Spain.
Faculty of Medicine, University of Valencia, Valencia, Spain.
出版信息
J Ophthalmic Vis Res. 2014 Apr;9(2):269-71.
PURPOSE
To report corneal findings in a familial case of the crystalline subtype of pre-Descemetic corneal dystrophy.
CASE REPORT
A 19-year-old girl and her 44-year-old mother were found to have asymptomatic, bilateral, punctiform and multi-colored crystalline opacities across the whole posterior layer of the corneas. Endothelial specular microscopy revealed the presence of white round flecks located at different levels anterior to the endothelium. No systemic abnormalities or medications could be related to account for these findings.
CONCLUSION
To the best of our knowledge, this is the third familial report of this rare corneal disorder. Differential diagnosis may include Schnyder corneal dystrophy, cystinosis, Bietti´s dystrophy and monoclonal gammopathy.
目的
报告一例家族性前弹力层下结晶样角膜营养不良晶体亚型的角膜表现。
病例报告
一名19岁女孩及其44岁母亲被发现双眼角膜后层全层存在无症状、双侧、点状及多色结晶样混浊。内皮细胞镜面反射显微镜检查显示在内皮细胞前方不同层面存在白色圆形斑点。未发现与这些表现相关的全身异常或用药情况。
结论
据我们所知，这是该罕见角膜疾病的第三例家族性报告。鉴别诊断可能包括施奈德角膜营养不良、胱氨酸病、比埃蒂营养不良和单克隆丙种球蛋白病。
Zotero 插件