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Article

Targeted CYP27A1 gene analysis for early identification of cerebrotendinous xanthomatosis in juvenile cataract patients: report of a novel variant.

BMC ophthalmology - 13 Jun 2026

Ceylan Ali, Güler Serkan, Aydin Fahri Onur, Akbas Yusuf Berk, Yildiz Burcin Kepez, Yildirim Yusuf

Abstract excerpt

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare yet treatable neurometabolic disorder caused by pathogenic variants in the CYP27A1 gene. Juvenile-onset cataracts may precede systemic signs, allowing for early diagnosis. This study evaluated the prevalence of CYP27A1 variants in patients with bilateral juvenile cataracts and described related clinical findings. METHODS: This single-center retrospective...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42288808
DOI: 10.1186/s12886-026-05023-0
PMCID: PMC13495382

Genes

CYP27A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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