The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome

Abstract

A South African family of Indian stock was investigated in which 4 brothers and 2 cousins had a severe form of osteogenesis imperfecta (OI) together with blindness due to hyperplasia of the vitreous, corneal opacity and secondary glaucoma. The syndromic association of OI and ocular problems of this type was not previously reported, and this condition seems to be a newly recognized entity. The pedigree is consistent with autosomal recessive inheritance.