title: Prevalence of thrombophilic genetic factors among patients with retinitis pigmentosa.
abstract: OBJECTIVE
  To determine the prevalence of thrombophilic factors in patients with retinitis pigmentosa (RP).
  
  
  METHODS
  Fifty consecutive patients with RP and 50 controls matched by age and gender were tested for the presence of the following mutations: factor II (GA20210), factor V Leiden (GA1691), methylenetetrahydrofolate reductase (CT677), factor XIIIa (Val→Leu), β-fibrinogen (GA455), tumor necrosis factor receptor (TNFRII) (M196R), plasminogen activator inhibitor-1 (PAI-1) (4 G/5 G), and plasminogen activator inhibitor-1 (PAI-1) (GA844).
  
  
  RESULTS
  The following heterozygous mutations were found in patients/controls: factor V Leiden (12/14), factor XIIIa (20/30), methylenetetrahydrofolate reductase 677 TT (48/52), β-fibrinogen GA455 (36/36), TNFRII (M196R) (40/42), PAI-1 4 G/5 G (40/48), and PAI-1 GA844 (50/52). The difference between patients with RP and the control group was not statistically significant for the prevalence of any of the studied factors (P > 0.05).
  
  
  CONCLUSIONS
  In this study, thrombophilic mutations were not increased in patients with RP. Thrombophilic mutations do not seem to be risk factors for RP. Routine investigation of hereditary thrombophilia in these patients is not justified.
authors.affiliation: *Department of Ophthalmology, University of Jordan, Amman, Jordan; †Department of Medicine and Hematology, Faculty of Medicine, University of Jordan, Amman, Jordan; ‡Department of Medical Statistics and Epidemiology, Hamad Medical Corporation, Hamad General Hospital, Doha, Qatar; and §Department of Public Health and Medical Education, Weill Cornell Medical College, New York, New York.
authors.forename: Almutez M
authors.initials: AM
authors.lastname: Gharaibeh
authors.forename: Abdalla S
authors.initials: AS
authors.lastname: Awidi
authors.forename: Osama H
authors.initials: OH
authors.lastname: Ababneh
authors.forename: Mohammed A
authors.initials: MA
authors.lastname: Abu-Ameerh
authors.forename: Muhammad A
authors.initials: MA
authors.lastname: Awidi
authors.forename: Mohanad M
authors.initials: MM
authors.lastname: Saleh
authors.forename: Abdulbari
authors.initials: A
authors.lastname: Bener
authors.forename: Mohammad A
authors.initials: MA
authors.lastname: Al-Khateeb
authors.forename: Manar R
authors.initials: MR
authors.lastname: Dweik
authors.forename: Muawyah D
authors.initials: MD
authors.lastname: Albdour
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D026122:Factor XIIIa / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D009154:Mutation; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D015995:Prevalence; D047889:Receptors, Tumor Necrosis Factor, Type II / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
chemical_list: C115499:BBeta fibrinogen; D017395:Plasminogen Activator Inhibitor 1; D047889:Receptors, Tumor Necrosis Factor, Type II; C051321:SERPINE1 protein, human; C095381:factor V Leiden; D005165:Factor V; D005340:Fibrinogen; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D026122:Factor XIIIa