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Article

Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1

12 Sept 2024

Abstract excerpt

Purpose: implicated in hereditary spastic paraplegia type 56 (HSP 56). Design: Cross sectional case series study. Participants: Five members of a non-consanguineous family (parents and 3 male children) were investigated. Methods: All family members underwent a full ophthalmic evaluation and multimodal retinal imaging. Two family members demonstrating retinal anomalies underwent additional OCT angiography, dual...

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PMID: 39605873
DOI: 10.1016/j.xops.2024.100618

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