Article

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

2025-05-06

Abstract excerpt

<title>Abstract</title> <p>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 about the disease, including ocular manifestations, is not yet fully understood. To date, there is...

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Literature Corpus work: d35f13dc-6d10-5319-97f6-9a030a1b97c3
DOI: 10.21203/rs.3.rs-5124059/v1

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