Familial simple ectopia lentis. A probable autosomal recessive form.

All three sibs from normal and unrelated parents had congenital ectopia lentis without extraocular abnormalities. This pedigree suggests an autosomal recessive form of simple ectopia lentis.

De novo del(6)(q25) associated with macular degeneration.

An eight-month-old girl with a de novo del(6)(q25) is described. She and other previous cases of 6q deletion showed concordance for developmental retardation associated with multiple unspecific congenital abnormalities, which do not yet allow the delineation of a syndrome. However, bilateral macular degeneration was found in the proposita and had been observed in another similar case, so it probably represents a distinctive feature of 6q terminal monosomy.