Article
Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature.
BMC ophthalmology - 4 Apr 2024
Ogreden Tulin Aras, Erdoğan Gürkan
Abstract excerpt
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, complicated by retinal detachment. CASE PRESENTATION: Both cases exhibited high myopia and various degrees of occipital skull defect. The first...
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