-
Several Crb mutant proteins accumulated abnormally in the rhabdomere and affected rhodopsin trafficking, suggesting that abnormal rhodopsin physiology contributes to Crb/CRB1-associated retinal degeneration.
-
Novel compound heterozygous mutations found in CRB1 were identified in a Chinese pedigree with Autosomal-recessive retinitis pigmentosa using targeted-capture next generation sequencing.
-
Retinal capillaritis, vitritis, and cystoid macular edema could be inflammatory features of CRB1 retinal dystrophy in our young patient.
-
In summary, mutations in CRB1 need to be considered as a potential cause of isolated maculopathy, particularly in cases where the central macular atrophy is associated with paracentral macular thickening and loss of normal lamination on OCT.
-
The traditional village therapy may have compromised retinal venous outflow and/or provoked a Valsalva phenomenon, leading to the bilateral retinal hemorrhages. The fact that this occurred bilaterally and in both sisters supports the concept of relative vessel wall incompetence as part of CRB1-related retinopathy.
-
Mutations in the CRB1 gene are associated with a spectrum of progressive retinal degeneration. Visual acuity survival analyses indicate that the optimal intervention window for subretinal gene therapy is within the first 2 to 3 decades of life.
-
This is the first report to implicate CRB1 as the underlying cause of FFR. This phenotype forms the mildest end of the spectrum of CRB1-related diseases.
-
The first study reporting on the molecular genetic cause of non-syndromic early-onset severe retinal dystrophy in Czech patients identified one homozygous and two compound heterozygote probands with CRB1 mutations.
-
We present the case of a child who presented during screening for uveitis associated with juvenile idiopathic arthritis with macular oedema and was found to have early onset retinal dystrophy and mutations in CRB1.
-
Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene.
-
CRB1 mutations may be associated with intraretinal cystoid spaces. The use of carbonic anhydrase inhibitors can result in improved visual acuity in some patients.
-
Comprehensive retinal dystrophy panel revealed a homozygous mutation in CRB1 (p.Pro836Thr:c.2506C>A) in both twins.
-
Removal of this side chain enhances the binding affinity by more than fivefold, suggesting that access of Crb to Pals1 may be regulated by intradomain contacts or by protein-protein interaction.
-
The phenotypic spectrum of recessive CRB1 mutation includes childhood cone-rod dystrophy with macular cystic degeneration and the associated ERG can be electronegative.
-
The phenotypes of these novel mutations for early-onset retinal dystrophy (EORD) are typical of CRB1-associated EORD
-
Study showed that CRB1 and CRB2 in human retinas have an opposite pattern of expression in Muller glia and photoreceptor cells compared with mouse retinas, and that Crb2 influences the severity of the murine Crb1-linked retinal dystrophies.
-
the mammalian apical CRB1 complex might control retinogenesis and prevents onset of Leber congenital amaurosis or retinitis pigmentosa.
-
Macular nummular pigmentation is a gene-specific indication for CRB1associated retinal dystrophy.
-
This report illustrates a novel presentation of a macular dystrophy caused by CRB1 mutations affecting 2 siblings exhibiting a relatively well-developed retinal structure and preservation of generalized retinal function.
-
The results from this study show that patients with Leber congenital amaurosis carry CRB1 null mutations more frequently than patients with retinitis pigmentosa.
