… retinal phenotype of the obligate carriers with CRB1 mutations consisting of regional retinal
dysfunction (found by mfERG testing… well with both published CRB1 knockout animal models. …

… , only 2 were observed in the heterozygous state in 2 control … try to identify additional regions
of the gene that will be fruitful … onset of retinal dysfunction seen in the patients in this study. …

… the physiological roles of CRB1 and CRB2 in retinal Müller glial … CRB1 and CRB2 proteins
localized to the subapical region … double homozygous Crb1 KO Crb2 F/F heterozygote for …

… CRB1 encodes a structural protein in the retinal external limiting … showing the CRB1
mutated region in wild-type, heterozygous and … It is possible that the patient has both disorders. …

… , are heterozygous for a 12-bp in frame deletion in the AIPL1 hinge region. However, in both
… speculate that the residual CRB1 activity correlates inversely with the phenotypic severity of …

… in patients CRB1-2 and CRB1-3 2 compound heterozygous … In this study, increased
retinal thickness and altered laminar … region. Although the small number of patients limits our …

… , which is the most severe retinal dystrophy, carry null alleles … heterozygous mutations; and
in one patient, we identified one allele (table 1). Screening of the promoter region of CRB1 in …

… of retinal dystrophy, Leber congenital amaurosis and Stargardt … genetic testing is desirable
for facilitating the diagnosis of … geographic region and detected 16 heterozygous carriers. This …

… Leber congenital amaurosis is considered the most severe and earliest occurring … Genetic
Analysis … (Cys948Tyr) mutation was found in compound heterozygous form in 3 of 5 LCA …

… By design, the chip includes all variants from the coding region … found only one heterozygous
mutation in CRB1 and RPGRIP1, … The most frequent mutated gene in this study was CRB1, …