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Article

Multimodal imaging in CABP4-related retinopathy.

Ophthalmic genetics - 1 Jan 2000

Schatz Patrik, Abdalla Elsayed Maram E A, Khan Arif O

Abstract excerpt

PURPOSE: Multimodal imaging has not been documented for CABP4-related retinopathy. In this study, we describe optical coherence tomography (OCT) and fundus autofluorescence findings for five genetically confirmed cases. METHODS: Retrospective case series. RESULTS: Four patients with the previously described homozygous Saudi CABP4 founder mutation c.81_82insA (p.Pro28ThrfsX44) and one patient with the homozygous...

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Identifiers

PMID: 28635425
DOI: 10.1080/13816810.2017.1289543

Genes

CABP4

Variants

Provenance

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