Methods: A comparative cross-sectional study involving 86 Malay premature babies (ROP = 41 and non-ROP = 45) was performed from September 2012 to December 2014. Mutation analyses in (FEVR)-causing genes (NDP, FZD4, LRP5, and TSPAN12) were performed using DNA from premature babies using polymerase chain reaction (PCR) and direct sequencing. Sequencing results were confirmed with PCR-Restriction Fragment Length Polymorphism (RFLP).
Results: We found variants of FZD4, LRP5, and TSPAN12 in this study. One patient from each group showed a non-synonymous alteration in FZD4, c.502C>T (p.P168S). A synonymous variant of LRP5 [c.3357G>A (p.V1119V)] was found in 30 ROP and 28 non-ROP patients. Two variants of TSPAN12, c.765G>T (p.P255P) and c.*39C>T (3'UTR), were also recorded (29 and 21 in ROP, 33 and 26 in non-ROP, respectively). Gestational age and birth weight were found to be significantly associated with ROP (P value < 0.001 and 0.001, respectively).
Conclusion: Analysis of data obtained from the ROP Malay population will enhance our understanding of these FEVR-causing gene variants. The c.3357G>A (p.V1119V) variant of LRP5, and c.765G>T (p.P255P) and c.*39C>T variants of TSPAN12 could be common polymorphisms in the Malay ethnic group; however, this requires further elucidation. Future studies using larger groups and higher numbers of advanced cases are necessary to evaluate the relationship between FEVR-causing gene variants and the risk of ROP susceptibility in Malaysian infants.
METHODS: Case series of three patients with syphilitic uveitis who were managed in Hospital USM.
RESULTS: Three patients were diagnosed to have uveitis secondary to Syphilis. All three patients were not known to have syphilis prior to presentation but have positive history of sexual promiscuity. All patients presented with progressive blurring of vision for average of one-month duration. Two of them have association with fever, ocular pain and floaters. Visual acuity at presentation ranges from 6/12 to hand movement. Mild anterior uveitis (non-granulomatous), vitritis and papillitis were presence in all the patients. First patient has multifocal chorioretinitis with exudative retinal detachment. The second patient presented with exudative retinal detachment while the third patient has chorioretinitis only. All the patients were treated with intramuscular benzyl-penicillin 2.4 MU weekly for 4 weeks and two of them received oral doxycycline 200mg twice daily for 3 months. The uveitis responded well to the treatment and two of them showed dramatic visual improvement from 6/120 to 6/21 and 6/12 to 6/6. The one with worse outcome was confirmed to have positive retroviral.
CONCLUSION: Ocular syphilis presented here as non-granulomatous inflammation associated with exudative retinal detachment. Final visual outcome is generally good despite slow improvement after treatment.