Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral XXXX .

@entity1 @entity2000 @entity227 @entity6391 @entity989 @entity1020 @entity1019
Purpose: To characterize in detail the phenotype and genotype of @entity1 with @entity2000 ( @entity2000 ). Methods: @entity1 were screened for an annular ring @entity1019 ranging from 3   to 40   (n = 28, ages 24-71) with kinetic perimetry. All @entity1 had @entity989 in the region of the dysfunction. Further studies included cross-sectional and en face imaging, static chromatic perimetry, and electroretinography. Molecular screening was performed. Results: Genotypes of 14 of 28 @entity2000 @entity1 were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some @entity1 over years to more than a decade could be stable or show increased extent of the @entity1019 . Electroretinograms were recordable but with different severities of dysfunction. Patterns of photoreceptor outer nuclear layer (ONL) loss corresponded to the distribution of @entity227 . Outer nuclear layer thickness topography and en face imaging indicated that the greatest disease expression was in the area of known highest rod photoreceptor density. Conclusions: Molecular heterogeneity was a feature of the @entity2000 phenotype. Many of the molecular causes were also associated with other phenotypes, such as @entity1020 , typical @entity6391 ( @entity6391 ) and @entity6391 . The pericentral pattern of @entity2000 is thus confirmed to be an uncommon phenotype of many different genotypes rather than a distinct disease entity.
