Aichmair H, Krepler P, Till P, Reisner T
Klin Monbl Augenheilkd. 1980 Dec;177(6):772-6. doi: 10.1055/s-2008-1057724.
In a one-year-old female patient, unilateral anophthalmos was ascertained by clinical, echographic and X-ray examination. In addition, the cranial computer tomogram showed trabecular agenesia. The globe of the other eye was existent and was enlarged by hydrophthalmos. Pediatrically this case represents a syndrome with multiple anomalies of etiologically unknown origin; apart from the ocular malformation there are a severe cerebral developmental disturbance, an apallic syndrome, hypsarrhythmia, peculiar disproportional bodily structure with skeletal anomalies as well as an abnormal susceptibility to infections of the respiratory system and a marked, isolated IgA-deficiency. Neither chromosomal anomaly nor familiarity was discovered.
在一名一岁女性患者中，通过临床、超声和X线检查确定为单侧无眼球。此外，头颅计算机断层扫描显示小梁发育不全。另一只眼的眼球存在且因水眼而增大。从儿科学角度来看，该病例代表一种病因不明的具有多种异常的综合征；除眼部畸形外，还有严重的脑发育障碍、去皮层综合征、高度节律失调、伴有骨骼异常的特殊不成比例的身体结构以及对呼吸系统感染的异常易感性和明显的孤立性IgA缺乏。未发现染色体异常和家族性因素。
