title: Dominant retinitis pigmentosa associated with two rhodopsin gene mutations. Leu-40-Arg and an insertion disrupting the 5'-splice junction of exon 5.
abstract: OBJECTIVE
  To determine the phenotypes of two families in which retinitis pigmentosa cosegregates with a rhodopsin (RHO) gene mutation: a leucine-to-arginine change at codon 40 (Leu-40-Arg) in one family, and a 150-base pair insertion that disrupts the RHO 5'-splice junction of exon 5 in another.
  
  
  METHODS
  Three affected members of each family.
  
  
  RESULTS
  The Leu-40-Arg mutation was associated with the onset of night blindness in the first decade of life. By the fourth decade, severe retinal functional loss was evident on dark-adapted static threshold perimetry, and electroretinographic responses were absent or barely detectable. In contrast, the RHO 150-base pair insertion was associated with the later onset of mild night vision difficulties; in two individuals, mild night vision difficulties were first noticed in the second decade while a third, a 25-year-old woman, was asymptomatic. Dark-adapted static threshold perimetry of this latter individual revealed a "regional" or class 2 pattern of retinal functional loss associated with equal loss of rod and cone electroretinographic responses.
  
  
  CONCLUSIONS
  The RHO Leu-40-Arg mutation causes symptomatic retinal dysfunction by the end of the first decade while the insertion disrupting the 5'-splice junction of RHO exon 5 causes later onset "regional" or class 2 retinal dysfunction.
authors.affiliation: Department of Clinical Ophthalmology, Institute of Ophthalmology, London, England.
authors.forename: R Y
authors.initials: RY
authors.lastname: Kim
authors.forename: M
authors.initials: M
authors.lastname: al-Maghtheh
authors.forename: F W
authors.initials: FW
authors.lastname: Fitzke
authors.forename: G B
authors.initials: GB
authors.lastname: Arden
authors.forename: M
authors.initials: M
authors.lastname: Jay
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
mesh_terms: D000328:Adult; D001120:Arginine; D003623:Dark Adaptation; D004596:Electroretinography; D005091:Exons; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000473:pathology; D012243:Rhodopsin / Q000235:genetics*; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: D012243:Rhodopsin; D001120:Arginine; D007930:Leucine