title: Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa.
abstract: OBJECTIVE
  To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function.
  
  
  METHODS
  Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP.
  
  
  RESULTS
  The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG.
  
  
  CONCLUSIONS
  These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype.
authors.affiliation: Department of Ophthalmology, University of Lund, Lund, Sweden.
authors.forename: Wissam
authors.initials: W
authors.lastname: Abdulridha-Aboud
authors.affiliation: Department of Ophthalmology, University of Lund, Lund, Sweden.
authors.forename: Ulrika
authors.initials: U
authors.lastname: Kjellström
authors.affiliation: Department of Ophthalmology, University of Lund, Lund, Sweden.
authors.forename: Sten
authors.initials: S
authors.lastname: Andréasson
authors.affiliation: Department of Ophthalmology, University of Lund, Lund, Sweden.
authors.forename: Vesna
authors.initials: V
authors.lastname: Ponjavic
mesh_terms: D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008266:Macula Lutea / Q000502:physiology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology*; D012243:Rhodopsin / Q000235:genetics; D013548:Sweden; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C454222:PRPF31 protein, human; D012243:Rhodopsin