J Pediatr Neurosci 2017 Oct-Dec;12(4):360-362
Ophthalmology Unit, Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Pisa, Italy.
This report details two novel mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenital bilateral cataracts. They also presented with microphthalmia, postnatal microcephaly, severe developmental delay, and hypotony. Read More