Cases Of Retinoblastoma Research Articles

Worldwide burden of retinoblastoma from 1990-2021.

To report the global, regional, and national burden of retinoblastoma between 1990 and 2021, by age, sex, and sociodemographic index (SDI). We leveraged the Global Burden of Disease 2021 Study to elucidate the epidemiological landscape of retinoblastoma, encompassing prevalence, incidence, mortality, and disability-adjusted life years (DALYs) across 204 nations and territories spanning the period from 1990 to 2021. The SDI was employed to evaluate the interplay between socio-economic development and the burden of retinoblastoma. In 2021, global estimates unveiled 57,333 prevalent cases of retinoblastoma, yielding 6,274 incident cases, 2,762 deaths, and 243,204 DALYs. Globally, the age-standardized prevalence, incidence, mortality, and DALY rates for retinoblastoma in 2021 were 0.86, 0.09, 0.04, and 3.65 per 100,000 population, respectively. Tokelau, Kenya, and Portugal demonstrated the highest age-standardized prevalence and incidence rates of retinoblastoma in 2021. The global prevalence of retinoblastoma peaks among children aged 2 to 4 years and subsequently declines with increasing age. At the regional level, the correlation between SDI and age-standardized prevalence rates for retinoblastoma manifested a V-shaped pattern. This comprehensive examination of retinoblastoma epidemiological trends underscores the imperative for heightened vigilance and more efficacious therapeutic interventions, especially within resource-limited environments. The findings accentuate the need for targeted strategies to address the disparate burden of retinoblastoma across diverse socioeconomic landscapes.

Abstract B030: Advancing precision management in retinoblastoma via aqueous humor liquid biopsy: A case of TP53 and MDM4 alterations

Abstract Background: Precision medicine has revolutionized cancer treatment, but its application in retinoblastoma (RB) has been limited due to the risks associated with traditional tumor biopsies, which can lead to the spread of cancer outside the eye. Blood plasma has not been effective in intraocular RB management because the blood-brain barrier (BBB) prevents tumor-derived material from entering the bloodstream, and in cases of bilateral RB—occurring in over 40% of patients—each eye may harbor distinct genomic alterations, complicating the use of blood-based biomarkers. Given these challenges, the discovery of tumor-derived genomic material in the aqueous humor (AH) offers a promising and safer alternative—a liquid biopsy that provides localized and specific insights into the tumor's genetic makeup. Although AH liquid biopsies have been valuable in identifying genomic changes in RB, they have yet to guide treatment decisions. This is primarily due to the rarity of the disease, the heterogeneity of treatment modalities, and the unclear definition of in vivo RB subtype classifications. Consequently, translating these genomic insights into actionable, personalized treatment strategies has been challenging. Now, we present the first application of AH-monitored treatment in a 35-month-old male with unilateral RB, characterized by TP53 alteration and ecDNA-MDM4 amplification, highlighting a significant advancement in the precision management of RB. Methods: AH samples were obtained via clear corneal paracentesis and analyzed for copy number alterations and somatic variants using shallow whole-genome sequencing and targeted sequencing. The patient initially received systematic CEV, followed with intravitreal melphalan (IVM) monotherapy. Due to resistance, treatment was escalated to a combination of intravitreal melphalan and topotecan (IVM+IVT), monitored by the AH liquid biopsy genomic findings. Results:The patient initially showed resistance to monotherapy with intravitreal melphalan (IVM), but dual therapy with melphalan and topotecan (IVM+IVT) significantly reduced tumor fraction (TFx) from 81.61% to 26.63% and decreased tumor size. Continued dual therapy and subsequent topotecan monotherapy resulted in complete regression of vitreous seeds and stabilization of the disease, as indicated by a final AH TFx of 0%. At our institution, Children's Hospital Los Angeles (CHLA), the majority of RB cases are treated using IAC or IVM, with dual chemotherapy regimens rarely employed. Conclusions: This case underscores the importance of tailoring treatment protocols to genetic profiles identified through AH liquid biopsy in managing aggressive RB. The successful combination of genomic profiling and personalized therapy has potential to significantly improve clinical outcomes, marking a critical step toward real precision management of RB. Further clinical collaboration is essential to validate and refine protocols for TP53-altered and ecDNA-MDM4-driven RB. Citation Format: Liya Xu, Elaine Huang, Jesse Lee Berry. Advancing precision management in retinoblastoma via aqueous humor liquid biopsy: A case of TP53 and MDM4 alterations [abstract]. In: Proceedings of the AACR Special Conference: Liquid Biopsy: From Discovery to Clinical Implementation; 2024 Nov 13-16; San Diego, CA. Philadelphia (PA): AACR; Clin Cancer Res 2024;30(21_Suppl):Abstract nr B030.

Hemostatic effect of 3D-printed hip fixators in children with retinoblastoma after intra-arterial chemotherapy: a non-randomized controlled trial

This study aimed to investigate the benefits of using three-dimensional (3D)-printed hip joint fixators after intra-arterial chemotherapy (IAC) by inguinal femoral artery puncture in children with retinoblastoma. Overall, 79 cases of retinoblastoma who had undergone IAC through the femoral artery were selected and divided into an observation group of 50 cases and an intervention group of 29 cases according to the hemostasis method employed. The patients in the observation group were treated with sandbags for hemostasis, while those in the intervention group were given 3D-printed hip joint fixators to help immobilize the hips and sandbags. We used the Face, Legs, Activity, Cry and Consolability scale (FLACC), the Wong–Baker Facial Expression Pain Scale, and self-made questionnaires to evaluate demographics, clinical characteristics, pain, complications, satisfaction, and other indicators of the two groups. There were no significant differences in general data, such as age, gender, height, weight, manual compression time, diseased eye, tumor stage, platelet count, puncture times, pain distribution, and total score, between the groups. There was a positive correlation between FLACC pain and the total Wong–Baker pain score (r = 0.599, p < 0.001). During the 2 h of sandbag compression, sandbags were dislodged in the observation group as many as ten times, which was significantly higher than that in the intervention group (up to four times; p < 0.001). This was correlated with a very high score of satisfaction (92.34 ± 19.96 out of 100). The 3D-printed hip fixator is easy to operate, has a low incidence of complications, and saves time and effort. It effectively reduces the incidence of sandbags falling off after IAC in children with retinoblastoma and does not increase the patient’s pain. It is a method that could improve hemostasis in young children undergoing IAC by inguinal femoral artery.

Disparities in US Retinoblastoma Presentation, Management, and Local Recurrence in the National Cancer Database, 2004–2016

PurposeTo investigate patient-level differences in retinoblastoma presentation, treatments, and outcomes within the United States. DesignRetrospective registry-based analysis. Participants1,404 retinoblastoma cases in the National Cancer Database, 2004-2016, a US-based cancer registry. MethodsPatient characteristics and treatments were investigated over time. Primary treatment was classified as enucleation, local tumor destruction, chemotherapy, and/or radiation. Multivariable logistic regression models evaluated extraocular disease at presentation, treatment, and local recurrence following primary globe-sparing therapy. Main Outcome MeasuresOdds ratios for extraocular disease at presentation; primary treatment modality; local recurrence after primary globe-sparing therapy. ResultsExtraocular disease affected 13% of patients at presentation (N=178). All-cause mortality among the entire cohort was 3.1% (n=44) at last follow-up Those who were non-white, uninsured or had government-funded insurance, or with non-metropolitan residence had significantly greater odds of extraocular disease (OR 2.21-3.64 for non-white vs. white non-Hispanic patients, OR 2.05-2.95 for uninsured or Medicaid/Medicare/government-funded vs. private/commercial insurance, and OR 1.80 for non-metropolitan vs. metropolitan residence). Between 2004-2016, utilization of chemotherapy (55% to 73%) and local tumor destruction (17% to 27%) increased. Enucleations remained over-represented among Hispanic patients (63% received enucleation in 2016, vs. 35% non-Hispanic patients; OR=1.83, (95% CI 1.22-2.75) for enucleation among Hispanic vs. white, non-Hispanic patients). Patients with Medicaid/Medicare/government insurance and non-metropolitan residence also had higher odds of enucleation, and non-metropolitan patients had higher odds of local recurrence after primary globe-sparing therapy. ConclusionsDespite overall decline in enucleation and increase in globe-sparing therapy between 2004-2016, Hispanic, Medicaid/Medicare/government-insured, and non-metropolitan patients continued to have higher odds of extraocular disease at presentation and higher odds of undergoing enucleation as primary therapy. This suggests limitations in access to care and that shifts towards globe-sparing treatment (chemotherapy and local tumor destruction) did not occur equally across all patient groups. Further investigations into these disparities is warranted.

Clinical Characteristics and Prognosis of 39 Cases of Retinoblastoma With Optic Nerve Stump Involvement.

Clinical Characteristics and Prognosis of 39 Cases of Retinoblastoma With Optic Nerve Stump Involvement.

Pineal gland ADC values in children aged 0 to 4 years: normative data and usefulness in the differential diagnosis with trilateral retinoblastoma.

Normative ADC values of the pineal gland in young children are currently lacking, however, these are potentially useful in the differential diagnosis of pineal involvement in trilateral retinoblastoma, which is challenging when the size of the tumor is less than 10-15mm. The main objective of this study was to establish ADC reference values of the normal pineal gland in a large cohort of children between 0 and 4 years. This retrospective study was conducted in a tertiary pediatric hospital. We collected 64 patients with normal MRI examination (between 2017 and 2024) and clinical indication unrelated to the pineal gland, and divided them into 5 age groups (0 to 4 years). Gland size and mean ADC values were calculated, using the ellipsoid formula and ROI/histogram analysis, respectively. The established values were tested in three cases of trilateral retinoblastoma (10 to 20 months). Mean ADC values were always above 1000 × 10- 6 mm2/s, while in patients with trilateral retinoblastoma they were around 800 × 10- 6 mm2/s. Pineal ADC values were identical in both genders. The volume of the pineal gland showed a tendency to increase with age. We present ADC reference data for the pineal gland in children under 4 years of age. The distribution of mean ADC values of trilateral retinoblastoma was significantly different from the normative values, hence, the use DWI/ADC may help to identify small trilateral retinoblastoma in children with ocular pathology.

Outcomes of five cases of retinoblastoma with optic nerve invasion on imaging

PurposeTo investigate the timing of enucleation, treatment course, and outcome for retinoblastoma (RB) with optic nerve (ON) invasion on imaging.Study designRetrospective clinical study.MethodsOf the 160 patients with RB who presented to the National Center for Child Health and Development in Japan between 2005 and 2022, ON invasion on imaging at the initial presentation was seen in five patients. The clinical, computed tomography (CT), and magnetic resonance imaging (MRI) findings, and treatment courses were reviewed retrospectively.ResultsMRI showed ON invasion in all five patients (three with unilateral RB, 2 with bilateral RB); in two patients CT detected no invasion. Enucleation was performed in four patients, three of whom underwent neoadjuvant therapy and one had a positive ON resection margin following the enucleation as initial treatment. One patient did not undergo enucleation due to cerebrospinal fluid dissemination. All enucleated patients underwent adjuvant chemotherapy. Four patients underwent radiotherapy. During follow-up (mean, 89.4 months), four patients survived and one died.ConclusionMRI is recommended to evaluate ON invasion and determine the timing of enucleation for RB. The appropriate choice of neoadjuvant or adjuvant therapy would be helpful to avoid radiotherapy for RB with ON invasion on imaging.

A comprehensive genotype-phenotype study in 203 individuals with retinoblastoma

Retinoblastoma is the most common intraocular tumor in children and is caused by biallelic inactivation of the RB1 gene. The identification of RB1 germline variants in patients with retinoblastoma and their families is critical for early diagnosis and prevention. In this study, genetic testing was conducted on the genomic DNA of 203 patients with retinoblastoma using a combined approach of direct sequencing and multiplex ligation-dependent probe amplification (MLPA) assays for genotype-phenotype correlation studies. Sixty-five germline variants were identified in 80 of the 203 patients, with 67 bilateral and 13 unilateral retinoblastoma cases. The variant detection rates in the bilateral and unilateral cases were 88% and 10%, respectively. Eighteen novel variants were identified. Variants were classified according to their presence, mutation pattern, location, molecular consequences, and pathogenicity. Subsequently, the genotypes and phenotypes of the 203 patients were evaluated. Variants were associated with age at diagnosis (p < 0.001), laterality (p < 0.001), and tumor size (p = 0.010). The molecular consequences of the variants were related to laterality (p < 0.001) and tumor size (p = 0.001). The pathogenicity of the variants was associated with age at diagnosis (p = 0.001), laterality (p = 0.0212), treatment response (p = 0.0470), and tumor size (p = 0.002). These results suggest that patient phenotypes are associated with the inherent characteristics of germline RB1 variants. These findings indicate the potential application of genetic testing results in clinical practice.

Dissemination of Retinoblastoma Post-Enucleation: Histopathological Risk Factors Review

Introduction: Examining the histopathological markers indicative of high risk in retinoblastoma is imperative for evaluating the potential for post-enucleation recurrence and metastatic spread. Purpose: This article seeks to elucidate diverse definitions of high-risk histopathological features in advanced retinoblastoma, which confer susceptibility to recurrence and metastasis following enucleation. Review: Reducing mortality rates associated with retinoblastoma poses a significant clinical challenge. It is well-established that post-laminar optic nerve invasion, extensive choroidal invasion, and scleral invasion are key features commonly observed in advanced retinoblastoma cases requiring enucleation. Conclusion: The presence of these features in advanced retinoblastoma necessitates adjunctive therapeutic interventions to reduce the risk of orbital recurrence or metastatic spread, thereby enhancing patient survival rates.

Demographic and Clinical Characteristics of Retinoblastoma Cases at a Tertiary Care Center in Eastern India.

This study aims to evaluate the burden, demographic profile, clinical characteristics, and management of retinoblastoma (RB) cases at a tertiary care center. This was a hospital-based study conducted in a tertiary care center in the Department of Ophthalmology from January 2018 to December 2022. All referred and newly diagnosed cases of RB coming to the outpatient department were included in the study after obtaining written informed consent from parents or guardians. Data collected were analyzed in terms of demographic profile, socioeconomic status, and clinical characteristics of the disease at the time of presentationand its treatment. Out of 155,671 new patients seen in the outpatient eye department during the study period, 118 eyes of 94 patients were diagnosed with RB. The burden of disease was found to be 60.4 cases per 100,000 patients. Malignancy was unilateral in 74.47% and bilateral in 25.53% of cases. The male-to-female ratio was 1.7:1. The mean age at presentation was 30.86±19.5 months. A family history of RB was seen in 4.26% of cases. Of the patients,80.85% belonged to upper-lower socioeconomic status. Most of the cases presented to us at an advanced stage of the disease (i.e., groups E and D). Most of our cases present at an advanced stage of RB, resulting in poor outcomes and survival rates. It is necessary to organize awareness campaigns about the fatal nature of the disease so it can be diagnosed early, leading to better visual and survival outcomes.

Cerebrospinal fluid cytology: A theragnostic and prognostic tool- Experience from a tertiary cancer care centre in central India

: CSF examination is the gold standard for diagnosing leptomeningeal metastases. Malignant cells may access the subarachnoid space by hematogenous dissemination, spreading directly from parenchymal brain lesions, or spreading along the spinal cord or cranial nerves. Cytological detection of malignant cells in CSF is still a crucial decision point for systemic and intrathecal chemotherapy, and it has prognostic significance even with improvements in biochemical analysis and CNS imaging. Over the course of two years, a total of 397 patients—regardless of gender and age—were investigated. There were sixty-four cases with involvement of the central nervous system documented, comprising 42 hematologic malignancies and 22 solid tumors. Cell centrifugation (Cytospin) method were used to prepare smears and cell blocks where prepared, as feasible and indicated. : A cytological analysis of the cerebrospinal fluid showed that metastatic tumors were much more prevalent than primary central nervous system tumours. Lung tumors were the most frequent primary site in our analysis, with breast, gastrointestinal, and female genital tract malignancies following closely behind. CNS involvement has been reported in patients with Lymphoma (DLBCL) and Leukemia (most commonly ALL, but also AML and JMML) among hematological malignancies. Two cases of Retinoblastoma and one each of Medulloblastoma and an Atypical teratoid/rhabdoid tumor were observed in the pediatric age group.: Cerebrospinal fluid cytology is a simple and useful method, used as a primary diagnostic method in the evaluation of leptomeningeal metastases. This helps in the early detection of secondary CNS lesions and allows for timely intervention, prognosis, and prediction of overall survival.

Multimodal imaging for the differential diagnosis and efficacy evaluation of intraocular retinoblastoma in children with selective ophthalmic artery infusion.

Retinoblastoma (RB) is the most common malignant tumor in children under the age of 3 years and is associated with a high disability and mortality rate. The aim of this study was, first, to evaluate the clinical efficacy of multimodal imaging in differentially diagnosing RB in children and in predicting the efficacy of selective ophthalmic artery infusion (SOAI) and, second, to identify the factors associated with this efficacy. This study retrospectively collected the data from 256 children with unilateral RB and intraocular involvement, including multimodal imaging magnetic resonance imaging (MRI), computed tomography (CT), and clinical characteristics. Among the cases, 33 with both CT and MRI data available were used to evaluate the diagnostic accuracy in distinguishing RB, with histopathological results serving as the gold standard. Additionally, a retrospective analysis was conducted on the MRI and clinical characteristics of 256 cases of unilateral RB with intraocular involvement before SOAI treatment. The predictive ability of imaging features and clinical characteristics for the treatment efficacy of children was analyzed, and the differences in globe salvage rates and visual preservation based on different tumor stages were evaluated. The diagnostic accuracy of CT imaging for RB was 96.96% while that of MRI was 84.84%, with both showing high consistency with the histopathological results. CT images demonstrated a posterior intraocular mass with a high-density appearance, with spots, patches, or clustered calcifications visible within the tumor. The CT values were mostly above 100 Hounsfield units (HU), and enhanced scanning showed varying degrees of enhancement in noncalcified masses. MRI showed low or moderate signal intensity on T1-weighted images and moderate-to-high signal intensity on T2-weighted images, with significant enhancement after contrast administration. Tumors with more calcifications showed long T1 and short T2 signals. Patients with better prognosis had a higher delta signal increase (ΔSI), a greater distance from the optic disc, smaller tumor diameter, absence of implantation nodules or smaller implantation range, endogenous growth pattern, smaller extent of retinal detachment, absence of clinical high-risk factors, no vitreous hemorrhage, no globe shrinkage, and smaller calcification volume. The distance between the tumor and optic disc, clinical high-risk factors, and tumor growth pattern were found to be independent factors associated with prognosis. The rate of successful globe salvage and visual acuity decreased with increasing tumor stage. CT and MRI are highly valuable for the comprehensive assessment of tumors in pediatric RB. MRI alone can complete a comprehensive assessment of patients with RB and thus allow for the reduction radiation dose in children. Calcification of the tumor is crucial for diagnosis, and imaging findings can serve to inform patient prognosis and treatment planning. The distance between the tumor and optic disc, clinical high-risk factors, and tumor growth pattern are closely related to the prognosis of children.

Intravitreal chemotherapy (IVC) in retinoblastoma: A study of clinical variables and ocular preservation outcomes.

10059 Background: Retinoblastoma, a primary intraocular malignancy, poses unique challenges in preserving life and vision. This retrospective study aims to analyze the impact of IVC in a population of retinoblastoma patients. The primary objective to avoid external radiotherapy, a recognized risk factor for second neoplasms, particularly in germline retinoblastoma cases. Methods: We conducted an analysis of retinoblastoma patients from 2011 to 2024. Clinical variables, including sex, age, laterality, intraocular retinoblastoma staging, and therapies employed, were prospectively documented. Results: The study included 59 patients (37 male; 22 female). Thirty-three percent of patients had unilateral tumors and an average age of 28 months at diagnosis, and 67% had bilateral tumors with an average age of 15 months. Sixty-one eyes were treated and classified at diagnosis as follow: 6 (9.8%) in groups A and B, 10(18%) in group C, 37(64%) in group D, 6(11%) in group E, and 2(3%) without initial information. IVC was administered as part of a multimodal treatment approach. A total of 203 cycles of IVC were performed, averaging 3.4 cycles per patient. Melphalan was used in 39% of cycles, followed by the combination of melphalan and topotecan in 35%, and topotecan alone in 26%. Seven of 61 (11.5%) were enucleated. Three of 61 eyes (4.9%) received radiotherapy. Control of vitreous seeds and vision preservation were achieved in 57/61 eyes (93%). No grade 3 or 4 adverse events occurred. Conclusions: IVC emerges as a crucial component in the management of retinoblastoma, offering a viable alternative to external radiotherapy. The analysis highlights the importance of this approach in preserving ocular integrity, thereby avoiding enucleation and reducing the risk of second neoplasms, particularly in germline retinoblastoma patients.

The Impact of Tumor Laterality (Unilateral vs. Bilateral) on Presentation and Management Outcome in Patients with Retinoblastoma.

Background: This study compares the outcomes of managing retinoblastoma between patients with unilateral and bilateral presentations. Methods: The study, conducted at the King Hussein Cancer Center in Amman, Jordan, retrospectively analyzed cases of retinoblastoma treated between March 2003 and December 2019. Evaluation criteria included clinical features, disease stage, treatment methods, and overall management outcomes. Results: The study comprised 697 eyes from 478 patients with retinoblastoma, with 52% being males. Bilateral disease was observed in 70% of patients, and a family history of retinoblastoma was more prevalent in cases with bilateral disease (20%) compared to those with unilateral disease (4%). Unilateral cases had a median age at diagnosis of 28 months, whereas bilateral cases were diagnosed at a median age of 6 months. Extra-ocular retinoblastoma was detected in 1% of eyes. According to the International Intraocular Retinoblastoma Classification (IIRC), 88% of unilateral cases presented with advanced disease (IIRC group D/E), compared to 46% in bilateral cases. Primary enucleation was performed in 29% of unilateral cases and 16% of bilateral cases (p-value 0.0007). Eye salvage rates were 31% in unilateral cases and 68% in bilateral cases (p-value < 0.0001). At 120 months of follow-up, 5% of patients died from secondary neoplasms or metastases, 81% were alive, and 14% were lost to follow-up. There was no significant difference in metastasis, secondary neoplasms, or mortality between patients with unilateral and bilateral retinoblastoma. Conclusions: This study highlights the nuanced differences in clinical characteristics and outcomes between unilateral and bilateral retinoblastoma, emphasizing the necessity of customized management and early detection strategies. It demonstrates that while bilateral retinoblastoma benefits from earlier detection and has a higher rate of eye salvage, there is no significant difference in metastasis or mortality rates when compared to unilateral cases. The critical roles of primary enucleation in advanced cases, along with effective communication and patient education, are also underscored to improve treatment adherence. Overall, these findings point to the importance of tailored approaches in optimizing outcomes for the diverse patient population affected by retinoblastoma.

Case Series on Imaging Features of Trilateral and Quadrilateral Retinoblastoma: What Radiologists Need to Know

Objective: To identify the differences between trilateral and quadrilateral retinoblastoma based on radiologic imaging.Case: We found three cases of retinoblastoma at Sanglah General Hospital. The retinoblastoma patients we found were boys under the age of 5. The first patient presented with swelling, pain, and impaired vision in the right eye. The second and third patients presented with eye protrusion and leukocoria. Computed tomography (CT) imaging revealed a calcified mass in the intraorbital region that extended to the cerebral hemispheres. It may be accompanied by hair-on-end periosteal reaction. In the first patient, the mass extended to the pineal gland. In the second and third patients, the mass extended to the suprasellar and pineal regions. Trilateral retinoblastoma consists of a primordial midline neuroectodermal tumor that originates in the pineal or suprasellar region. It is an uncommon combination of unilateral or bilateral retinoblastomas. Quadrilateral retinoblastoma, on the other hand, presents with bilateral retinoblastoma and tumors in both the suprasellar and pineal regions. The histopathology of trilateral and quadrilateral retinoblastoma shows a different pattern from retinoblastoma.Conclusion: Retinoblastoma poses one of the most challenging problems due to its distinct patterns of growth, extension, and recurrence. Intracranial metastasis of trilateral and quadrilateral retinoblastoma exhibits a different pattern. The prognosis and diagnosis of retinoblastoma are significantly influenced by clinical examination, radiologic imaging, and histopathology.

RETINOBLASTOMA IN AN OLDER CHILD: A CASE REPORT

Retinoblastoma is the most common intraocular malignancy of childhood. More than 90% of the patients are under 5-years old. It is uncommon in age above 5 years. In this study we report a case of retinoblastoma in a 9-year-old girl. She presented to our department with decreased vision in left eye noted for 6 days. Vision loss was non-progressive, associated with mild pain. Snellen’s acuity in the affected eye was light perception only. There were no signs of active inflammation in the anterior chamber. Anterior vitreous face demonstrated exuberant vitreous inflammation. A large, elevated, sessile lesion occupying the inferotemporal quadrant was seen just behind the lens with significant adjacent inflammation. Right eye examination was unremarkable. Ultrasound and Magnetic Resonance Imaging demonstrated retinoblastoma with no extra-ocular spread. Enucleation was done and biopsy of ocular tissue and bone marrow trephine biopsy was found normal. We conclude that any suspicious lesion in childhood must be evaluated for retinoblastoma. Even in older child the retinoblastoma may be localized and may have good visual prognosis.

Epidemiology, Diagnosis and Genetics of Retinoblastoma: ICMR Consensus Guidelines.

Retinoblastoma (RB) is the most common intraocular tumor in childhood. It is mainly caused by mutations in both alleles of the RB1 tumor suppressor gene that is found on chromosome 13 and regulates the cell cycle. Approximately 8000 children are diagnosed with RB globally each year, with an estimated 1500 cases occurring in India. The survival rate of RB has improved to more than 90% in the developed world. Leukocoria and proptosis are the most common presenting features of RB in Asian Indian populations. Most cases of RB are diagnosed by fundus examination followed by ultrasound. The International Classification of Retinoblastoma is the most used scheme for the staging and classification of intraocular RB in India. Prenatal testing and preimplantation genetic testing for RB may be beneficial in high-risk families. Histopathologic risk factors such as massive choroidal invasion and post-laminar optic nerve help in predicting the occurrence of metastasis in children with RB, while presence of microscopic residual disease requires aggressive adjuvant treatment in eyes enucleated for group E RB. The review provides a consensus document on diagnosis and genetics of RB in India.

What do we miss in this Orbital Retinoblastoma?

Introduction : Orbital retinoblastoma (RB) is a dire event with a bleak prognosis. This report highlights the severe complications of retinoblastoma resulting from insufficient diagnostic and treatment efforts due to inadequate medical resources and socio-economic challenges.&#x0D; Case Illustration : A 4-year-old boy was brought in with swelling on his left eye socket and jaw, present for two months.He had exhibited leukocoria followed by proptosis 12 months prior and underwent enucleation without dermato-fat graft (DFG) five months ago. Histopathology revealed retinoblastoma without optic nerve invasion. Despite referral to a regional hospital for chemotherapy, he did not receive treatment due to socio-economic constraints. Two months post-operation, the left eye prosthesis spontaneously dislodged, accompanied by an enlarging eye and a left jaw mass. An ophthalmologic assessment disclosed a mass in the left orbital socket, while the right eye appeared normal. A CT scan identified masses in the left orbit, parotid, and masticator spaces, as well as bilateral colli lymphadenopathy. The patient was diagnosed with residual retinoblastoma and received chemotherapy.&#x0D; Discussion : Imaging is crucial in proptosis patients to determine tumor extent and management strategies. The standard approach involves initial chemotherapy, surgery, radiotherapy, and additional chemotherapy. High-risk histological features (HHRF) also warrant chemotherapy, although the presence of such features remains undetermined in this case. Employing multiple treatment modalities may enhance prognosis.&#x0D; Conclusion : Thorough examination and management are essential in retinoblastoma cases. Patient family education and diligent care play a crucial role in preventing the progression and spread of retinoblastoma.

Enucleation and Dermato-fat Graft for Retinoblastoma Management : A Case Report

Introduction : Retinoblastoma is the most common intraocular malignant tumor found in children before 3 years old can occur unilaterally, bilaterally, hereditary or sporadic. Incidence of about 1:14,000-20,000 individuals. This tumor originated from embryogenic retinal cells. Retinoblastoma gene (RB1) located in the 13q14 chromosome&#x0D; Case Illustration : A 3-year-old girl presented with leukocoria. Her parents notice whitish in her right eye swollen, teary, painful since 2 months ago. No family history. Visual acuity (VA) on the oculus dextra ( OD) no light perception, oculus sinistra (OS) 6/6. Intraocular pressure on OD n-1/palpation, OS n/palpation. Examination under anasthesia for diagnostic found there weren’t palpebral edema, conjunctival injection, hazy cornea, pupil, lens couldn’t be evaluated on OD. Ultrasound showed sugest vitreous seeding and ptisis. CT scan showed solid mass with calcification and diagnosed retinoblastoma stage group E. Patient was treated with chemoreduction using Vincristine, Etoposide, Carboplatine combined enucleation with dermato-fat graft. We did nervus opticus dissection and histopathological examination which showed retinoblastoma.&#x0D; Discussion : The common signs of retinoblastoma is leukocoria. The priority is saving life followed by globe preservation. Treatment based on the stage of the disease. We did chemotherapy in this patient, followed by enucleation and dermato-fat graft. Enucleation stills the main therapy for saving life with nervus opticus dissection as possible. Dermato-fat graft has been shown to grow along with the expanding orbit in children therefore shows cosmetics.&#x0D; Conclusion : This report illustrates a case of Retinoblastoma. The chemotherapy and enucleation using safe dermato-fat graft procedure with implant followed by a well fitted prosthesis for better cosmetics

Clinical variant in three families with unique mutation in RB1 gene

Herein, we present a case series encompassing three families characterized by a diverse phenotype and a distinctive genotype. In the first family, the patient exhibited bilateral retinoblastoma, while the elder sibling manifested retinocytoma; both parents displayed no abnormalities. In contrast, the second family featured a mother with bilateral retinoblastoma and the older sister showed retinocytoma. The third family presented cases of retinoblastoma in both the patient and the younger sibling, with the father exhibiting retinocytoma. Genetic analysis uncovered mutations in the blood of the proband, elder sibling, and mother in the first and second families, while the third family exhibited mutations in the father and both offspring. Notably, this series underscores the presence of variable expressivity and penetrance, particularly evident in the first family’s experience with retinoblastoma.