Yanagi Yasuo, Tamaki Yasuhiro, Takahashi Hidenori, Sekine Hisaki, Mori Mikiro, Hirato Takaaki, Okajima Osamu
Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan.
Retina. 2004 Apr;24(2):267-74. doi: 10.1097/00006982-200404000-00013.
Crystalline retinopathy is an infrequently encountered disorder characterized by reflective retinal crystalline deposits. The clinical findings of seven patients with crystalline retinopathy are documented.
Clinical features of crystalline retinopathy were studied retrospectively in seven patients, three of whom were followed up for 2 to 5 years.
Six patients had a similar fundus appearance, that is, the reflective yellow deposits located mainly in the deep retina with retinal pigment epithelium atrophy throughout the posterior pole and mid-peripheral retina and with choriocapillaris atrophy at the posterior pole. However, the results from electroretinogram responses were markedly variable. Two of the patients showed marked electroretinogram functional impairment. In addition, other sibling patients only 3 years apart in age had different degrees of disease expression.
There is considerable variability in functional manifestations among patients with crystalline retinopathy, even in intrafamilial cases.
结晶样视网膜病变是一种罕见的疾病,其特征为视网膜有反光性结晶沉积物。本文记录了7例结晶样视网膜病变患者的临床发现。
对7例结晶样视网膜病变患者的临床特征进行回顾性研究,其中3例患者随访了2至5年。
6例患者眼底表现相似,即反光性黄色沉积物主要位于视网膜深层,整个后极和中周边视网膜存在视网膜色素上皮萎缩,后极部有脉络膜毛细血管萎缩。然而,视网膜电图反应结果差异显著。2例患者显示出明显的视网膜电图功能损害。此外,年龄仅相差3岁的其他同胞患者有不同程度的疾病表现。
即使在家族性病例中,结晶样视网膜病变患者的功能表现也存在很大差异。