GENETIC STUDIES ON ECTOPIA LENTIS

Abstract

The present report on the inheritance of ectopia lentis is based on the study of a single kindred displaying this relatively rare ocular anomaly. The pedigree includes six generations, the first two of which are known only from historical evidence supplied by the descendants. A total of 157 of the descendants were examined in their homes or in the University Hospital ophthalmic clinic, where slit lamp and refraction facilities were available. Twenty-four with ectopia lentis were observed, and the history of 5 other persons suggested probable dislocation of the lenses. In addition, 2 unaffected members were regarded as gene carriers, since they possessed affected children and grandchildren. Besides the ocular examinations of members of the various families belonging to this kindred, several other tests and measurements were made, including anthropometric measurements, serologic tests of blood and saliva, determination of the taste reaction to phenylthiocarbamide, tests of color vision and eye