[Unilateral congenital anophthalmos with Trabecular agenesia and hydrophthalmos of the other eye (author's transl)].
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.
D000853:Anophthalmos / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D006871:Hydrophthalmos / Q000150:complications*; D007223:Infant; D014057:Tomography, X-Ray Computed; D014129:Trabecular Meshwork / Q000002:abnormalities*; D014463:Ultrasonography
Einseitiger angeborener Anophthalmus mit Balken-agenesie und Hydrophthalmus am anderen Auge.