title: Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
abstract: OBJECTIVE
  To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations.
  
  
  METHODS
  Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes were recorded for an average of 9.8 years in 113 patients with RPGR mutations. After censoring data to eliminate ceiling and floor effects, we used longitudinal regression to estimate mean rates of change and to compare these rates with those of a previously studied cohort of 134 patients with dominant retinitis pigmentosa due to RHO mutations, who were followed for an average of 8.9 years. Survival analysis was used to compare the age distribution of legal blindness in these two groups. To explain group differences in visual acuity, optical coherence tomograms were recorded in some patients to visualize central retinal structure.
  
  
  RESULTS
  Mean annual exponential rates of decline for the patients with RPGR mutations were 4.0% for visual acuity, 4.7% for visual field area, and 7.1% for ERG amplitude. Each of these rates was significantly different from zero (P < 0.001). The rates of visual acuity and visual field loss were significantly faster than the corresponding rates in the RHO patients (1.6%, P < 0.001 and 2.9%, P = 0.002, respectively), whereas the rate of ERG amplitude loss was comparable to that in the RHO patients (7.7%, P = 0.39). The median age of legal blindness was 32 years younger in the RPGR patients than in the RHO patients, due primarily to loss of visual acuity rather than to loss of visual field. Loss of acuity in RPGR patients appeared to be associated with foveal thinning.
  
  
  CONCLUSIONS
  Patients with X-linked retinitis pigmentosa due to RPGR mutations lose visual acuity and visual field more rapidly than do patients with dominant retinitis pigmentosa due to RHO mutations.
authors.affiliation: Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA. masandberg@aol.com
authors.forename: Michael A
authors.initials: MA
authors.lastname: Sandberg
authors.forename: Bernard
authors.initials: B
authors.lastname: Rosner
authors.forename: Carol
authors.initials: C
authors.lastname: Weigel-DiFranco
authors.forename: Thaddeus P
authors.initials: TP
authors.lastname: Dryja
authors.forename: Eliot L
authors.initials: EL
authors.lastname: Berson
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000503:physiopathology*; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012160:Retina / Q000503:physiopathology*; D012174:Retinitis Pigmentosa / Q000235:genetics / Q000503:physiopathology*; D012243:Rhodopsin / Q000235:genetics; D016019:Survival Analysis; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000503:physiopathology*; D014792:Visual Acuity / Q000502:physiology*; D014794:Visual Fields / Q000502:physiology*
chemical_list: D005136:Eye Proteins; D020662:Guanine Nucleotide Exchange Factors; C099929:RPGR protein, human; D012243:Rhodopsin