Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
Abstract Background Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder.It represents an uncommon cause of pediatric retinal detachment.This report presents two cases with different COL18A1 gene mutations, Mystery Shirt complicated by retinal detachment.Case presentation Both cas