A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family

A Novel Mutation in the Membrane Frizzled-Related Protein Gene for Posterior Microphthalmia, Non-pigmented Retinitis Pigmentosa, Optic Nerve Drusen, and Retinoschisis in a Consanguineous Family

BackgroundMicrophthalmos (MCO) is a rare developmental defect characterized by small malformed eyes. Our study aimed to describe the clinical characteristics of posterior microphthalmos syndrome caused by a novel variant in MFRP gene in a Chinese patient.MethodsComplete ophthalmologic examinations w...

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Bibliographic Details
Main Authors: Xiang Ren, Yunxia Gao, Yu Lin, Xiangyu Fu, Lirong Xiao, Xiaoyue Wang, Zhibing Zeng, Li Bao, Naihong Yan, Ming Zhang, Li Tang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Medicine
Subjects:
membrane frizzled-related protein (MFRP) gene
retinoschisis
microphthalmia
retinitis pigmentosa
glaucoma
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2022.835621/full

Internet

https://www.frontiersin.org/articles/10.3389/fmed.2022.835621/full

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