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Article

A novel COL4A5 splicing variant in alport syndrome presenting with extreme myopia.

Ophthalmic genetics - 1 Jun 2026

Liu Yuming, Liu Yufan, Ye Zi, Li Zhaohui

Abstract excerpt

OBJECTIVE: This study aims to describe the diagnosis and management of a case with bilateral anterior lenticonus. METHODS: A comprehensive ophthalmological assessment was performed on the proband, including: ultrasound biomicroscopy (UBM), optical biometric measurement, fundus photography, optical coherence tomography (OCT), visual field testing, and pure-tone audiometry. The patient subsequently underwent...

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Share to RNA Splicing
Share to Collagen Type IV
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Myopia

Share to Myopia, Degenerative

Share to Nephritis, Hereditary

Share to Tomography, Optical Coherence

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Source

Identifiers

PMID: 41399159
DOI: 10.1080/13816810.2025.2600318

Genes

COL4A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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