BRIEF DESCRIPTION
Retinitis pigmentosa (RP) due to mutations in the crumbs homologue 1 (CRB1) gene. It's a specific form of RP known as RP12, and is characterized by severe vision loss before age 20 and preserved para-arteriolar retinal pigment epithelium (PPRPE). CRB1 retinitis pigmentosa include the typical symptoms of retinitis pigmentosa (i.e., night blindness, gradual loss of peripheral vision, and progressive degeneration of photoreceptors).
CRB1 mutations can also cause other retinal dystrophies, including Leber Congenital Amaurosis (LCA), which is the most severe case of early-onset retinal degeneration. The CRB1 gene encodes the Crumbs homolog-1 protein, this process is important for cell-to-cell contact, photoreceptor morphogenesis, and polarization of epithelial cells.
At present, there's no cure for retinitis pigmentosa, but medications can help treat complications. A medical professional can diagnose and manage the condition to improve symptoms.
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.