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April 4, 2024BMC OphthalmologyOpen Access

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

Tulin Aras Ogreden Gürkan Erdoğan

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Abstract

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.

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Cite This Study

Ogreden et al. (2024) studied this question.

synapsesocial.com/papers/68e70681b6db6435876802d0 https://doi.org/10.1186/s12886-024-03418-5

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Knobloch Syndrome Type 1 with a Novel Pathogenic Variant in the COL18A1 Gene: Case Report and Review of the Literature2024
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