Prevalence of thrombophilic genetic factors among patients with retinitis pigmentosa

• Published in: Retina (Philadelphia, Pa.) Vol. 34; no. 10; p. 2147
• Main Authors: Gharaibeh, Almutez M, Awidi, Abdalla S, Ababneh, Osama H, Abu-Ameerh, Mohammed A, Awidi, Muhammad A, Saleh, Mohanad M, Bener, Abdulbari, Al-Khateeb, Mohammad A, Dweik, Manar R, Albdour, Muawyah D
• Format: Journal Article
• Language: English
• Published: United States 01.10.2014
• Subjects: Adult; DNA Mutational Analysis; Factor V - genetics; Factor XIIIa - genetics; Female; Fibrinogen - genetics; Genetic Predisposition to Disease; Genotype; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Mutation; Plasminogen Activator Inhibitor 1 - genetics; Prevalence; Receptors, Tumor Necrosis Factor, Type II - genetics; Retinitis Pigmentosa - genetics; Risk Factors; Thrombophilia - genetics; Young Adult
• ISSN: 1539-2864
• DOI: 10.1097/IAE.0000000000000176

To determine the prevalence of thrombophilic factors in patients with retinitis pigmentosa (RP). 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). 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). 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.