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

Creative Commons License

Ogreden T. A., Erdoğan G.

BMC Ophthalmology, vol.24, no.1, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 1
  • Publication Date: 2024
  • Doi Number: 10.1186/s12886-024-03418-5
  • Journal Name: BMC Ophthalmology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals
  • Keywords: Case report, COL18A1 gene, Knobloch syndrome, Pediatric retinal detachment, Retinal surgery
  • Istanbul Medipol University Affiliated: Yes


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 case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis. Conclusions: The report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.