CRB1

Disease Category: autosomal recessive

Patient Population:

Known Clinical Trials: 

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CRB1 mutations in inherited retinal dystrophies

Mutations in the CLRN1 gene cause Usher syndrome type 3 (USH3), a human disease characterized by progressive blindness and deafness. Clarin 1, the protein product of CLRN1, is a four-transmembrane protein predicted to be associated with ribbon synapses of photoreceptors and cochlear hair cells, and recently demonstrated to be associated with the cytoskeleton. 

Research Models and Gene Augmentation Therapy for CRB1 Retinal Dystrophies

Nanda Boon, Jan Wijnholds, and Lucie P. Pellissier, Frontier Neuroscience, 14 Aug 2020.

https://doi.org/10.3389/fnins.2020.00860

In this review, we will discuss the recent advances, advantages and disadvantages of different CRB1 human and animal retinal degeneration models. In addition, we will describe novel therapeutic tools that have been developed, which could potentially be used for retinal gene augmentation therapy for RP patients with variations in the CRB1 gene.

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