title: Molecular Heterogeneity Within the Clinical Diagnosis of Pericentral Retinal Degeneration.
abstract: OBJECTIVE
  To characterize in detail the phenotype and genotype of patients with pericentral retinal degeneration (PRD).
  
  
  METHODS
  Patients were screened for an annular ring scotoma ranging from 3° to 40° (n = 28, ages 24-71) with kinetic perimetry. All patients had pigmentary retinopathy 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 PRD patients were identified: There were mutations in eight different genes previously associated with autosomal dominant or autosomal recessive RDs. Kinetic fields monitored in some patients over years to more than a decade could be stable or show increased extent of the scotoma. Electroretinograms were recordable but with different severities of dysfunction. Patterns of photoreceptor outer nuclear layer (ONL) loss corresponded to the distribution of visual dysfunction. 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 PRD phenotype. Many of the molecular causes were also associated with other phenotypes, such as maculopathies, typical retinitis pigmentosa (RP) and cone-rod dystrophy. The pericentral pattern of retinal degeneration is thus confirmed to be an uncommon phenotype of many different genotypes rather than a distinct disease entity.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Matsui
authors.forename: Artur V
authors.initials: AV
authors.lastname: Cideciyan
authors.forename: Sharon B
authors.initials: SB
authors.lastname: Schwartz
authors.forename: Alexander
authors.initials: A
authors.lastname: Sumaroka
authors.forename: Alejandro J
authors.initials: AJ
authors.lastname: Roman
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Swider
authors.forename: Wei Chieh
authors.initials: WC
authors.lastname: Huang
authors.forename: Rebecca
authors.initials: R
authors.lastname: Sheplock
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D017948:Retinal Rod Photoreceptor Cells / Q000378:metabolism / Q000473:pathology; D041623:Tomography, Optical Coherence; D058609:Visual Field Tests; D014794:Visual Fields; D055815:Young Adult
chemical_list: D005136:Eye Proteins; D004247:DNA