Katz B, Melles R B, Schneider J A
Department of Ophthalmology, University of California, San Diego, La Jolla.
Arch Ophthalmol. 1987 Dec;105(12):1667-9. doi: 10.1001/archopht.1987.01060120065025.
Cystinosis is a rare autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body organs due to a defect in lysosomal cystine transport. The pathognomonic ocular manifestations of cystinosis are the presence of distinctive iridescent crystals within ocular tissue and a pigmentary retinopathy. We measured spatial contrast sensitivity in seven patients with infantile-onset nephropathic cystinosis and compared their contrast sensitivity function with that measured in ten age-matched controls. Spatial contrast sensitivities in the patient group were significantly lower than those in the normal group. Loss of contrast sensitivity in the patients with nephropathic cystinosis was more pronounced at higher spatial frequencies. We speculate that this loss of contrast function is primarily a manifestation of corneal disease, with secondary contributions from retinal changes and central nervous system dysfunction.
胱氨酸贮积症是一种罕见的常染色体隐性代谢紊乱疾病，由于溶酶体胱氨酸转运缺陷，非蛋白胱氨酸在大多数身体器官中蓄积。胱氨酸贮积症的特征性眼部表现是眼组织内存在独特的彩虹色晶体和色素性视网膜病变。我们测量了7例婴儿型肾病性胱氨酸贮积症患者的空间对比敏感度，并将他们的对比敏感度函数与10例年龄匹配的对照组进行比较。患者组的空间对比敏感度显著低于正常组。肾病性胱氨酸贮积症患者在较高空间频率下对比敏感度的丧失更为明显。我们推测这种对比功能的丧失主要是角膜疾病的表现，视网膜变化和中枢神经系统功能障碍也有次要作用。
