Viestenz A, Gusek-Schneider G C, Jünemann A G, Shin Y S, Naumann G O
Augenklinik mit Poliklinik der Universität Erlangen-Nürnberg, Schwabachanlage 6, 91054 Erlangen.
Klin Monbl Augenheilkd. 2001 Feb;218(2):121-4. doi: 10.1055/s-2001-12256.
Increased plasma galactitol levels may lead to development of bilateral pediatric cataract.
A 3-year-old boy was found to suffer from a bilateral zonular cataract. Extracapsular lensectomy with posterior capsulotomy, transpupillar anterior vitrectomy and posterior chamber lens implantation were performed during a 4-month-interval.
The epimerase-activity in red cells of the index patient was found to be significantly decreased (11.2 mumol/h/g Hb; normal range; 19-35). From other family members, such as the brother (16.8), the father (16.0) and the grandfather (15.6), a diminished red cell activity was observed. The mother whose epimerase activity was considerably lower than that of the above mentioned family members (13.3) showed also a zonular bilateral cataract.
Investigation of enzymes and polyols of galactose metabolism as well as consultation of the concerned families are recommended for clarification of cataract development.
血浆半乳糖醇水平升高可能导致小儿双侧白内障的发生。
一名3岁男孩被发现患有双侧 zonular 白内障。在4个月的间隔期内进行了囊外晶状体切除术联合后囊切开术、经瞳孔前路玻璃体切除术和后房型人工晶状体植入术。
发现该索引患者红细胞中的表异构酶活性显著降低（11.2 μmol/h/g Hb；正常范围：19 - 35）。在其他家庭成员中，如兄弟（16.8）、父亲（16.0）和祖父（15.6），观察到红细胞活性降低。表异构酶活性明显低于上述家庭成员（13.3）的母亲也患有双侧 zonular 白内障。
建议对半乳糖代谢的酶和多元醇进行研究，并咨询相关家庭，以明确白内障的发病机制。
