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

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dc.authorid0000-0002-7386-370X
dc.contributor.authorÖğreden, Tülin Aras
dc.contributor.authorErdoğan, Gürkan
dc.date.accessioned2024-05-13T12:48:18Z
dc.date.available2024-05-13T12:48:18Z
dc.date.issued2024
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalı
dc.description.abstractBackground: 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.
dc.identifier.citationÖğreden, T. A. ve Erdoğan, G. (2024). Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature. BMC Ophthalmology, 24(1). http://dx.doi.org/10.1186/s12886-024-03418-5
dc.identifier.doi10.1186/s12886-024-03418-5
dc.identifier.issn1471-2415
dc.identifier.issue1
dc.identifier.pmid38575892
dc.identifier.scopus2-s2.0-85189631075
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://dx.doi.org/10.1186/s12886-024-03418-5
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12447
dc.identifier.volume24
dc.identifier.wos001197180200002en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorÖğreden, Tülin Aras
dc.language.isoen
dc.relation.ispartofBMC Ophthalmologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsAttribution 4.0 International*
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/.*
dc.subjectCase Report
dc.subjectCOL18A1 Gene
dc.subjectKnobloch Syndrome
dc.subjectPediatric Retinal Detachment
dc.subjectRetinal Surgery
dc.titleTwo patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature
dc.typeArticle

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