Multiple retinal holes and peripheral nonperfusion in muscle-eye-brain disease.

M uscle-eye-brain (MEB) disease is a rare congenital autosomal recessive disorder with around 30 reported cases in the literature. It is 1 of 3 types of congenital muscular dystrophy with severe defects in organogenesis and neuronal migration, and, along with Walker-Warburg syndrome, is associated with ocular abnormalities. Usually, the retina in MEB disease and Walker-Warburg syndrome is described as dysplasic. A detailed histopathologic description has been given, but a clinical description of retinal findings, especially in early disease, is lacking. Herein, we describe detailed retinal findings in a neonate with the diagnosis of MEB disease confirmed by genetic testing.