Article

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of<i>CYP2U1</i>

2023-03-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> To report the retinal phenotype in two patients simulating type 2 macular telangiectasis with new variants in CYP2U1 implicated in Hereditary Spastic Paraplegia type 56 (HSP 56). <h4>Methods</h4> Five members of a non-consanguineous family (parents and three male children) were investigated. All family members underwent a full ophthalmological evaluation and multimodal retinal im...

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Literature Corpus work: cf3cecf3-c49b-527a-8ee8-2146d75fafcb
DOI: 10.1101/2023.03.07.23286486

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