KNOBLOCH SYNDROME IN A LARGE BRAZILIAN CONSANGUINEOUS FAMILY - CONFIRMATION OF AUTOSOMAL RECESSIVE INHERITANCE

Knobloch syndrome is a rare genetic disorder characterized by high myo pia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large con sanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, comp atible with the diagnosis of Knobloch syndrome. CT scan and MRI perfor med in one of the patients, allowed a better understanding of the cran ial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inh eritance of Knobloch syndrome. (C) 1994 Wiley-Liss, Inc.