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Article

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.

Molecular medicine reports - 1 Apr 2021

Zhou Yijing, Guo Dongwei, Cao Qianzhong, Zhang Xinyu, Jin Guangming, Zheng Danying

Abstract excerpt

Isolated ectopia lentis (IEL) can lead to blindness as result of severe complications, such as retinal detachment and secondary glaucoma. Pathogenic variants in the fibrillin 1 (FBN1) gene are a common cause of IEL. The aim of the present study was to investigate the frequency of pathogenic FBN1 variants in twelve probands with IEL and to evaluate their associated phenotypes. Systemic clinical examination of the...

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Identifiers

PMID: 33576469
DOI: 10.3892/mmr.2021.11914
PMCID: PMC7893787

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