Kagotani Y, Takao K, Nomura K, Okubo K
Ophthalmic Division, Kobe Children's Hospital, Japan.
Nippon Ganka Gakkai Zasshi. 1995 Mar;99(3):376-83.
We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length causing high myopia, and vitreoretinal degeneration. The vitreous cavity of case 1 (a 15-year-old boy) which contained fibrous clouded membranous structures floating in the retrolental space and dense opacity at the temporal-inferior portion, was optically empty. Case 2 (a 7-year-old boy) had cortical and posterior subcapsular opacity of the lens, and also veil-like vitreous opacity in the periphery. Their common retinal changes were characterized as perivascular lattice degeneration and white without pressure in various degrees. They have not yet shown cataract or retinal detachment which needs surgical treatment, but close ophthalmological follow up will be necessary for their favorable prognosis. The literature on vitreoretinal degeneration such as Wagner's disease or Stickler syndrome may indicate the relation of Kniest dysplasia to similar diseases. Because they might have different clinical courses and visual prognosis according to the original biosynthetic disorders, we emphasized the importance of orthopedic diagnosis regarding such vitreoretinal degeneration with constitutional bone diseases.
我们报告了2例Kniest发育不良患儿的眼部检查结果。这2例患者的双眼均有异常的眼轴长度，导致高度近视以及玻璃体视网膜变性。病例1（一名15岁男孩）的玻璃体腔光学上呈空虚状态，其中含有漂浮在晶状体后间隙的纤维状云雾状膜性结构，且颞下部分有致密混浊。病例2（一名7岁男孩）有晶状体皮质及后囊下混浊，周边还有薄纱样玻璃体混浊。他们共同的视网膜改变表现为不同程度的血管周围格子样变性和无压力性白色病变。他们尚未出现需要手术治疗的白内障或视网膜脱离，但为了获得良好预后，密切的眼科随访是必要的。关于玻璃体视网膜变性的文献，如瓦格纳病或施蒂克勒综合征，可能提示Kniest发育不良与类似疾病的关系。由于根据原始的生物合成障碍，它们可能有不同的临床病程和视觉预后，我们强调了对于这种伴有全身性骨病的玻璃体视网膜变性进行骨科诊断的重要性。
