Problemi di Genetica Oculistica: VI. Atrofia Ereditaria Progressiva dell'Iride
- 1 January 1959
- journal article
- research article
- Published by Cambridge University Press (CUP) in Acta geneticae medicae et gemellologiae
- Vol. 8 (1) , 39-64
- https://doi.org/10.1017/s1120962300019053
Abstract
SUMMARY: A family beloging to an isolated locality of Latium and comprising 362 subjects was studied. Among these subjects 63 cases of variably complicated iris atrophy, which the Authors distinguish in three degrees according to the severity of the disease, were found and studied. From the nosological point of view, glaucoma and hydrophthalmus proved to occur as secondary manifestations of the iris atrophy in this family. From the genetic standpoint it was confirmed that the transmission of the disease occurs by a dominance trait and that it probably corresponds only to a couple of autosomic allelomorphs. The penetrance seems to be almost complete, while the expressivity may be very variable.Keywords
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