Wilson D J, Weleber R G, Beals R K
Arch Ophthalmol. 1987 May;105(5):651-7. doi: 10.1001/archopht.1987.01060050069040.
Jeune's syndrome is an autosomal-recessive condition characterized by multiple organ abnormalities, the most severe of which affect the skeleton, kidneys, and eyes. Severe respiratory insufficiency frequently results in death in infancy, but several patients have been reported to survive to adulthood. For this reason the prognosis for patients with ocular abnormalities is of interest in counseling families. We report a sibship of two patients who showed evidence for progression by visual field and electroretinogram testing when followed up over 3.7 years. Progressive electroretinographic abnormalities consisted of the following: progressive decrease in responses mediated by dark-adapted rods and both dark- and light-adapted cones in the first patient and progressive increase in b-wave implicit time elicited by 30-Hz flicker stimulation in the second patient.
儒内综合征是一种常染色体隐性疾病，其特征为多器官异常，其中最严重的影响骨骼、肾脏和眼睛。严重的呼吸功能不全常导致婴儿期死亡，但有报道称部分患者存活至成年。因此，眼部异常患者的预后在为家庭提供咨询时备受关注。我们报告了一个有两名患者的同胞家族，在3.7年的随访中，通过视野和视网膜电图测试显示有病情进展的证据。视网膜电图的进行性异常包括：第一名患者中，暗适应视杆细胞以及暗适应和明适应视锥细胞介导的反应逐渐降低；第二名患者中，30赫兹闪烁刺激诱发的b波潜伏时间逐渐增加。
