A 10-year retrospective study on the presentation, treatment, and outcomes of retinoblastoma patients in a Philippine Tertiary Hospital

Objective@#This study reported the demographic profile, clinical presentation, treatment, and outcomes of retinoblastoma (RB) patients seen at Jose R. Reyes Memorial Medical Center (JRRMMC) from January 2011 to December 2020.@*Methods@#This was a single-center, retrospective study. Medical records of patients diagnosed with RB at JRRMMC from January 2011 to December 2020 were reviewed. Descriptive statistics were used to summarize the characteristics of the participants.@*Results@#A total of 31 confirmed RB cases were seen, with almost half residing outside Metro Manila (52%). The median age at diagnosis was 2 years, with a slight male predominance (55%). Majority (81%) of patients had unilateral presentation, with leukocoria as the most common sign (19%) prompting consult. Nearly half (43%) of 37 eyes were diagnosed as Group E using the International Classification of Retinoblastoma (ICRB) system. Majority were in the advanced stage; 57% of eyes underwent enucleation and 29, 3 and 3% of patients required additional treatments such as chemotherapy, laser, and radiotherapy, respectively. RB was confirmed in 20 eyes (54%) through histopathology. Survival outcomes showed that 4 patients (13%) were alive, with either completed or ongoing treatment, and 19 (61%) did not complete prescribed management or were lost to follow-up. There were 8 (26%) known deaths.@*Conclusion@#Majority of cases were unilateral and at an advanced stage needing enucleation which may indicate low levels of awareness and screening efforts. Survival rates are difficult to ascertain due to patients abandoning treatment that may be attributed to limited social service support. The study reflects the 10-year data prior to the establishment of a collaborative, multispecialty RB team in the institution and exposes various areas that need to be addressed to improve clinical outcomes.

Molecular genetic profiling of Filipino patients with retinoblastoma: A preliminary study

Objective@#To detect and characterize retinoblastoma susceptibility gene (RB1) mutations in tumor samples collected from Filipino patients with retinoblastoma.@*Methods@#Six tumor samples were obtained from Filipino patients diagnosed with retinoblastoma. DNA was extracted from the tumor samples and exons 13-21 of the RB1 gene were amplified by polymerase chain reaction (PCR). PCR amplification products were subsequently purified and sequenced. Mutation detection and characterization were done by alignment of obtained sequences to the RB1 reference sequence from NCBI GenBank using Bioedit® software. The identified mutations were correlated with clinical presentation and family history. These mutations were also compared to known mutations reported in the RB1 Gene Mutation Leiden Open Variation Database (LOVD).@*Results@#Mutations were detected in two out of the six samples. In a patient with unilateral disease and no family history, two mutations were identified: a novel CGT>AGT (Arginine → Serine) missense mutation in position c.1861 of exon 19 and a previously reported CGA>TGA (Arginine → STOP) nonsense mutation in position c. 1735 of exon 18. A possible large exonic deletion was identified in a case of unilateral disease with no family history.@*Conclusion@#We were able to identify both novel and known mutations in the RB1 gene of Filipino retinoblastoma cases using DNA sequencing techniques. These techniques may be applied to further characterize the genetic mutations of Filipino retinoblastoma cases and their families in developing a rational method of genetic testing for early diagnosis and counseling.

Results of initial screening for retinopathy of prematurity at a tertiary hospital

Objective@#To determine the prevalence and severity of retinopathy of prematurity (ROP) and its associated factors on initial examination of infants screened at a tertiary hospital.@*Methods@#A descriptive retrospective study was done using clinical charts of infants screened for ROP at a tertiary hospital from January 2007 to August 2009. Results of the initial examination were collated and analyzed.@*Results@#A total of 112 eyes of 56 infants were screened. Upon initial examination, 21(18.75%) eyes of 11 infants were positive for ROP. Of these, 14 (12.5%) eyes of 8 infants had severe ROP warranting laser or surgical intervention. Sixty-nine (61.6%) eyes of 35 infants had immature retina, while 22 (19.64%) eyes of 11 infants had mature retina. Three (2.68%) eyes had stage 5 ROP. The infants with stage 5 ROP had mean gestational age of 28 6/7 weeks by LMP and mean birth weight of 1,282 grams. The positive cases were most commonly associated with oxygen exposure (100%), sepsis (85.71%), and blood transfusion (80.95%).@*Conclusion@#The finding of more than half of the positive cases warranting laser or surgical interventions on initial examination merits re-evaluation of screening recommendations and their timing.