Investigating the CRB1 gene
Retinal death can be caused by several genes. When there is an error in the CRB1 gene, some people become severely visually impaired.
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CRB1
Disease Category: autosomal recessive
Patient Population: unknown
Known Clinical Trials: 1 study recruiting
Treatment Options: none known
Strategies to Preserve Eye Health:
Institution(s) Conducting Research: Sanford Health
Sioux Falls (U.S.) | Online Patient Enrollment System (Australia) | UMC Utrecht
A FACE OF RP
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IN THE NEWS
ACADEMIC PAPERS | JOURNAL ARTICLES | PERSONAL STORIES
CRB1 mutations in inherited retinal dystrophies
Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz | Human Mutation | 2011 Dec 27 | Vol. 33, Issue 2 | 306–315 | doi.org/10.1002/humu.21653
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 | 2020 Aug 14 |
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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