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Article

Ophthalmological and Genetic Profile in Knobloch Syndrome.

American journal of ophthalmology - 1 Sept 2025

Ozdek Sengul, Ozdemir Zeydanli Ece, Kayhan Gulsum, Yalcin Ebru, Ozdemir Huseyin Baran, Ergun Mehmet Ali, Sonmez Kenan, Khan Arif O, Ghazi Nicola G

Abstract excerpt

PURPOSE: To analyze the clinical and genetic characteristics of Knobloch syndrome (KNO) in a large cohort, with a focus on retinal detachment (RD) characteristics, surgical outcomes, and variants in the COL18A1 gene. DESIGN: Retrospective, multicenter interventional/observational case series. SUBJECTS: Thirty-four patients (68 eyes) with clinically and genetically confirmed KNO were included. METHODS,...

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Child, Preschool
Encephalocele
Genetic Testing
Hearing Loss, Sensorineural
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Retinal Degeneration

Retinal Detachment

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Identifiers

PMID: 40374141
DOI: 10.1016/j.ajo.2025.05.003

Genes

COL18A1

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

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