1. pedigrees published before 1920 and cited by Siemens.1 ELP is inherited as a recessive trait.5 11 Fran9ois11 summarised publications from 1885 to 1947 and noted that consanguinity has been reported in many studies. He noted further that there were no exceptions to the concept of an autosomal recessive inheritance. An autosomal recessive inheritance of the ELP syndrome is suggested by the occurrence in several siblings of one generation, consanguinity,2 4 5 14 15 and an equal distribution between males and females. Extensive search of the literature resulted in only two pedigrees with more than one affected generation. In the report of Walls and Heath,10 two generations were affected, suggesting a dominant inheritance: a female with ELP had a son with normal pupils but with ectopia lentis in one eye; her twin sister had ectopia lentis in both eyes. Strebel and Steiger in 1915 reported the occurrence of ELP in four generations, in combination with myopia and cardiac disease.'
2. A strict distinction into an autosomal recessive inherited ELP syndrome, an autosomal dominant inherited ectopia pupillae syndrome or an autosomal dominant inherited ectopia lentis syndrome, is in our opinion too artificial and probably no longer justified. In order to solve the many questions, we must go back to the genetic mechanisms involved in the development of both lens and iris. Waardenburg25 wrote in 1932: 'it is very likely that the recessive ectopia lentis syndrome and the ectopia pupillae et lentis syndrome, at least in a number of cases, have a common genetic origin.' Whatever the transmission, the affected members of the pedigree we present here are suffering from a common genetic defect
3. Ueber die Aetiologie der Ectopia lentis et pupillae nebst einigen allgemeinen Bemerkungen uber Vererbung bei Augenleiden;Siemens, H.W.;Graefes Arch K/in Exp Ophthalmol
4. Over het erfelijkheidsmoment bij de aangeboren verplaatsing van de pupil en lens;Waardenburg, P.J.;Genetica,1924
5. Ueber ectopia pupillae et lentis congenita;Zeeman, W.P.C.;K/in Monatsbl Augenheilkd,1925