Walker-Warburg Syndrome Manifesting as Leopard Spot Retinopathy, Retinal Detachment, and Microphthalmia.
Walker-Warburg syndrome, also known as HARD+/-E, is a congenital autosomal recessive disorder characterized by hydrocephalus, agyria, and retinal dysplasia, with or without encephalocele. The authors describe an infant with Walker-Warburg syndrome who presented with microphthalmia, retinal detachment, and leopard spot retinopathy.
Park
Shin Hae
SH
Shin
Sun Young
SY