title: Clinical and Electrophysiologic Characteristics of a Large Kindred with X-Linked Retinitis Pigmentosa Associated with the RPGR Locus.
abstract: OBJECTIVE
  To phenotypically and genotypically characterize a large Puerto Rican kindred with X-linked retinitis pigmentosa associated with a novel RP GTPase regulator (RPGR) genotype.
  
  
  METHODS
  A total of 100 family members of a single kindred with X-linked RP were evaluated with ophthalmic examinations and blood DNA analysis. Visual fields, OCT, and full-field ERG were obtained on all affected males and carriers.
  
  
  RESULTS
  Of the 100 family members examined, 13 were affected males and 18 were carriers. A deletion of 2 base pair of the RPGR gene in the ORF15 region at position c.2267-2268 (Lys756del2aaAG hemi) was identified with the affected and carriers. Best eye visual acuity was correlated with age (Spearman coefficient = 0.95) with hand-motion acuity by age 35 and light perception to no light perception by age 50-60. Visual fields were minimally plottable by age 40, and ERG responses reached non-detectable levels by late teens. Carriers had no or mild visual symptoms. All carriers had visual acuity of at least 20/50 or better in one eye, and the amount of retinal degeneration was variable with ERG responses ranging from severely impaired to normal.
  
  
  CONCLUSIONS
  Profound visual loss occurred by the second decade of life with progression to near no light perception by age 60 in this kindred of X-linked RP associated with the RPGR genotype. Female carriers maintained visual acuity with age and were identifiable by clinical and ERG examination. The information from this study is important to determine the optimal age for intervention, as new RP treatments are being developed and tested.
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Jonathan H
authors.initials: JH
authors.lastname: Tzu
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Tania
authors.initials: T
authors.lastname: Arguello
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Audina M
authors.initials: AM
authors.lastname: Berrocal
authors.affiliation: b Berrocal Eye Clinic , San Juan , Puerto Rico .
authors.forename: Maria
authors.initials: M
authors.lastname: Berrocal
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Alejandra D
authors.initials: AD
authors.lastname: Weisman
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Mu
authors.initials: M
authors.lastname: Liu
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Ditte
authors.initials: D
authors.lastname: Hess
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Michelle
authors.initials: M
authors.lastname: Caputo
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Goldberg
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: William J
authors.initials: WJ
authors.lastname: Feuer
authors.affiliation: c Department of Ophthalmology and Visual Sciences , University of Iowa , IA , USA , and.|d Howard Hughes Medical Institute, University of Iowa Carver College of Medicine , Iowa City , IA , USA.
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.affiliation: a Bascom Palmer Eye Institute, University of Miami Miller School of Medicine , Miami , FL , USA .
authors.forename: Byron L
authors.initials: BL
authors.lastname: Lam
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D016366:Open Reading Frames / Q000235:genetics; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology
chemical_list: D005136:Eye Proteins; C099929:RPGR protein, human
keywords: Electroretinogram; RPGR; X-linked Retinitis pigmentosa