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Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Genes - 1 Oct 2024

Vasilyeva Tatyana, Kadyshev Vitaly, Khalanskaya Olga, Kuznetsova Svetlana, Ionova Sofya, Marakhonov Andrey, Zinchenko Rena

Abstract excerpt

BACKGROUND/OBJECTIVES: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the COL18A1 gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome. METHODS: We conducted comprehensive clinical...

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Adolescent
Child, Preschool
Encephalocele
Exome Sequencing
Non-Fibrillar Collagens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Retinal Detachment

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Identifiers

PMID: 39457419
DOI: 10.3390/genes15101295
PMCID: PMC11506921

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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