Clinical presentation of retinoblastoma in Alexandria: A step toward earlier diagnosis

Abstract

Objective: To evaluate the clinical presentation of retinoblastoma in Alexandria, Egypt, correlate the timing of accurate diagnosis with the presence of advanced disease and identify causes of delayed presentation. Methods: Retrospective noncomparative single institution study reviews demographic and clinical data of all new children with retinoblastoma presenting to Alexandria Main University ocular oncology clinic (OOC) from January 2012 to June 2014. Diagnosis time was from initial parental complaint to retinoblastoma diagnosis and referral time was from retinoblastoma diagnosis to presentation to the Alexandria OCC. Delayed Diagnosis and referral were counted if >2 weeks. Advanced presentation is defined as clinical TNMH (8th edition) staging of cT2 or cT3 (international intraocular retinoblastoma classification group D or E) in at least one eye or the presence of extra-ocular disease (cT4). Results: Seventy eyes of 47 children were eligible: 52% unilateral, 7% with family history and 96% presented with leukocorea. Sixtyfour percent of children had advanced intraocular disease and none had extra-ocular disease. Delayed presentation occurred in 58% of children and was significantly associated with advanced disease in both unilaterally and bilaterally affected children (p = 0.003, 0.002 respectively). The delay in diagnosis was more in unilateral cases while the delay in referral was more in bilateral cases. The main cause of delayed presentation in unilateral retinoblastoma was misdiagnosis (30%) while parental shopping for second medical opinion (30%) was the main cause in bilateral children. Conclusions: Delayed diagnosis is a problem affecting retinoblastoma management. Better medical education and training, health education and earlier screening are recommended to achieve earlier diagnosis.

Clinical Features of Children with Retinoblastoma and Neuroblastoma

“…In the retinoblastoma cohort, delayed diagnosis longer than 2.5 months was an adverse prognostic factor, which is in agreement with the results of other studies [ 16 , 19 ]. Xiao et al [ 19 ] found that high-risk retinoblastoma had a longer interval from symptom presentation to enucleation than standard-risk retinoblastoma.…”

“…Our findings suggested that delayed diagnosis may affect the prognosis of pediatric retinoblastoma and neuroblastoma patients, inevitably leading to heavier economic and psychological burdens. Although the survivals of retinoblastoma and neuroblastoma have improved significantly, early diagnosis is still closely correlated with better prognosis, earlier disease stage, and smaller tumor size [ 16 ]. Pediatric solid tumors have unique anatomical locations, cellular origins, and clinical presentations [ 2 ].…”

“…Xiao et al [ 19 ] found that high-risk retinoblastoma had a longer interval from symptom presentation to enucleation than standard-risk retinoblastoma. According to Soliman et al [ 16 ], delayed diagnosis is significantly associated with advanced disease in both unilateral and bilateral retinoblastomas. Moreover, children with a delay of diagnosis longer than 30 days are at a significantly higher risk of extraocular invasion [ 19 ].…”

Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand

“…However, a male predominance has been reported in some studies [ 13 ], which might be attributed to the lack of attention to female children in those countries, particularly in rural areas [ 13 ]. Similar to several prior studies [ 5 , 7 – 10 , 12 , 13 , 17 , 19 , 23 – 25 , 27 , 29 , 55 ], the most common presenting symptom in our study was leukocoria (76.5%), followed by strabismus (9.9%). As an initial sign, proptosis was found in 40% of cases in a study from Nepal [ 30 ], whereas none of our patients exhibited proptosis at their initial visit.…”

“…Another report from a single institute of Bangkok during 1997 to 2006, which included 90 retinoblastoma patients, showed the survival rate of 85% [ 6 ]. Numerous studies worldwide, including Asia [ 7 – 30 ] and Thailand [ 4 – 6 , 31 – 34 ], have described the clinical manifestations and treatment outcomes of retinoblastoma, but these studies did not use IAC, brachytherapy, or intravitreal chemotherapy as part of retinoblastoma treatment [ 5 – 8 , 11 – 13 , 17 – 19 , 23 – 25 , 30 – 34 ]. Therefore, our study was aimed to fill in the gap in investigating clinical presentations and treatment outcomes of retinoblastoma in relation to the advent of recent treatment modalities in Thailand.…”