The Crumbs complex has prominent roles in the control of apical cell polarity, in the coupling
of cell density sensing to downstream cell signaling pathways, and in regulating junctional …

Objectives To report the genetic basis of Leber congenital amaurosis (LCA) in northern
Pakistan and to describe the phenotype. Methods DNA from 14 families was analyzed using …

Mutations in the CRB1 gene lead to retinal dystrophies ranging from Leber congenital
amaurosis (LCA) to early-onset retinitis pigmentosa (RP), due to developmental defects or …

Understanding phenotype–genotype correlations in retinal degeneration is a major
challenge. Mutations in CRB1 lead to a spectrum of autosomal recessive retinal dystrophies …

Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset
retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt …

The present invention relates to a Crumbs homologue (CRB) therapeutic for use as a
medicament or in a method of treatment or prophylaxis, for example in the treatment or …

Mutations in the CRB1 gene cause severe retinal degenerations, which may present as
Leber congenital amaurosis, early onset retinal dystrophy, retinitis pigmentosa, or cone-rod …

Background Inherited eye diseases are major causes of vision loss in both children and
adults. Inherited eye diseases are characterized by clinical variability and pronounced …

Purpose To reveal the characteristics of ocular changes in patients with biallelic CRB1
mutations. Design Comparative exome sequencing and retrospective case series on clinical …

Purpose.: We evaluated the role of Crumbs homolog 1 (CRB1) in autosomal recessive (AR)
retinal diseases in the Israeli and Palestinian populations using homozygosity mapping …