The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.
We have investigated a South African family of Indian stock 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. To the best of our knowledge the syndromic association of OI and ocular problems of this type has not previously been reported, and we believe that this condition is a newly recognised entity. The pedigree is consistent with autosomal recessive inheritance.
D001766:Blindness / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography