Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

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, complicated by retinal...

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Bibliographic Details
Main Authors: Tulin Aras Ogreden, Gürkan Erdoğan
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Ophthalmology
Subjects:
Knobloch syndrome
COL18A1 gene
Pediatric retinal detachment
Retinal surgery
Case report
Online Access:https://doi.org/10.1186/s12886-024-03418-5

Internet

https://doi.org/10.1186/s12886-024-03418-5

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