Multimodal imaging of RCBTB1-associated retinal dystrophy.

Abstract excerpt

INTRODUCTION: Variants in the RCBTB1 gene have recently been described in patients with inherited retinal disease; so far, there is limited knowledge about this entity, differential diagnoses, and disease progression. Here, we report a novel splice variant in RCBTB1 and describe the associated retinopathy. METHODS: Clinical assessment included multimodal imaging with optical coherence tomography, blue-light...

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