Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa

Multiple problems: a case of Cohen syndrome VPS13B mutation causing bilateral spherical lenses combined with retinitis pigmentosa

Abstract Background Cohen syndrome is a rare autosomal recessive disorder characterized by facial anomalies with or without microcephaly, non-progressive intellectual disability, hypotonia, ocular abnormalities, and neutropenia. Due to its low prevalence and diverse presentations, much information a...

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Main Authors: Yifan Wang, Keqing Meng, Hong Chen, Xin Jin, Guoxing Yang, Gaoyang Ma, Yu Cheng, Chenyu Zhao, Congcong Zheng, Ming Xie, Pengju Gao, Lifei Wang, Wulin Zhang
Format: Article
Language:English
Published: BMC 2025-08-01
Series:BMC Ophthalmology
Subjects:
Cohen syndrome
VPS13B
Spherical lenses
Lens subluxation
Retinitis pigmentosa
High myopia
Online Access:https://doi.org/10.1186/s12886-025-04201-w
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