CRB1 related retinal degeneration with novel mutation
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2020.100699
Abstract: Purpose To describe novel and previously unreported genetic mutations in the CRB1 gene in a patient with retinal dystrophy. To increase the genotype-phenotype understanding of CRB1-related retinal degenerative diseases and describe patients’ response to therapy.… read more here.
Keywords: crb1 related; related retinal; novel mutation; retinal degeneration ... See more keywords
CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum
Sign Up to like & getrecommendations! Published in 2019 at "Iranian biomedical journal"
DOI: 10.29252/ibj.23.5.8
Abstract: Background Leber congenital amaurosis (LCA) is a rare inherited retinal disease causing severe visual impairment in infancy. It has been reported that 9-15% of LCA cases have mutations in CRB1 gene. The complex of CRB1… read more here.
Keywords: pathogenic variants; novel pathogenic; congenital amaurosis; gene ... See more keywords
CRB2 Loss in Rod Photoreceptors Is Associated with Progressive Loss of Retinal Contrast Sensitivity
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20174069
Abstract: Variations in the Crumbs homolog-1 (CRB1) gene are associated with a wide variety of autosomal recessive retinal dystrophies, including early onset retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). CRB1 belongs to the Crumbs family,… read more here.
Keywords: contrast sensitivity; loss; loss rod; crb2 loss ... See more keywords
Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Sign Up to like & getrecommendations! Published in 2019 at "Molecular medicine reports"
DOI: 10.3892/mmr.2019.10495
Abstract: Retinitis pigmentosa (RP) is a leading cause of inherited blindness characterized by progressive loss of retinal photoreceptor cells. The present study aimed to identify the causative gene mutations in two Chinese families with autosomal recessive… read more here.
Keywords: retinitis pigmentosa; two chinese; mutations two; crb1 ... See more keywords