Ocular Manifestations of Donnai Barrow Syndrome

Abstract

Donnai-Barrow syndrome is an autosomal recessive disease due to mutations in the LRP2 gene described by Donnai and Barrow in 1993. We report through this clinical case the various ophthalmologic and extraocular manifestations of Donnai Barrow syndrome which remains a very rare congenital malformation. High myopia is a risk factor for severe amblyopia and/or retinal detachment which requires a regular monitoring.
 The management of this disabling disease is multidisciplinary, involving the ophthalmologist, the otorhinolaryngologist, the pediatrician and the psychiatrist.