No abstract

X-linked dominant chondrodysplasia punctata is a human gene defect characterized by punctate foci of epiphyseal calcification, cataracts, ichthyosis, and systematized atrophoderma. In a comparative study, the murine X-linked mutant 'bare patches' was found to display strikingly similar skeletal, ocular, and cutaneous anomalies. The human as well as the murine phenotypes occur exclusively in the female sex, apparently because the underlying mutations are lethal for male embryos. In both traits, the cutaneous lesions are arranged in a linear and blotchy pattern reflecting lyonization. The observed similarities constitute strong evidence that the two genes are homologous. The proposed homology is a further example of the evolutionary conservatism of the X-chromosome in mammals.

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From 1972 to 1983 iridocyclectomy was performed in 18 patients because of an invasive growing tumor of the iris and ciliary body. Surgical techniques were those of Mackensen (1972), the trap-door technique, and a trepanation of the sclerocornea with regrafting. In 16 out of 18 cases total removal of the tumor was accomplished; in two cases there was a recurrence. In the other cases it was possible to preserve useful visual acuity.

No abstract