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Background: Retinoblastoma (RB) is initiated by mutation in both alleles of RB1 gene. However, few cases may occur even in the absence of RB1 mutation suggesting the role of genes other than RB1 ., Methodology: The current study was planned to utilize targeted exome sequencing in Indian RB patients affected with unilateral non-familial RB. 75 unilateral RB patients below 5 years of age were enrolled. Genomic DNA was extracted from blood and tumor tissue. From peripheral blood DNA, all coding and exon/intron regions were amplified using PCR and direct sequencing. Cases which did not harbor pathogenic variants in peripheral blood DNA were further screened for mutations in their tumor tissue DNA using targeted exome sequencing. Three pathogenicity prediction tools (Mutation Taster, SIFT, and PolyPhen-2) were used to determine the pathogenicity of non-synonymous variations. An in-house bioinformatics pipeline was devised for the mutation screening by targeted exome sequencing. Protein modeling studies were also done to predict the effect of the mutations on the protein structure and function., Results: Using the mentioned approach, we found two novel variants (g.69673_69674insT and g.48373314C>A) in RB1 gene in peripheral blood DNA. We also found novel variants in eight genes ( RB1 , ACAD11 , GPR151 , KCNA1 , OTOR , SOX30 , ARL11 , and MYCT1 ) that may be associated with RB pathogenesis., Conclusion: The present study expands our current knowledge regarding the genomic landscape of RB and also highlights the importance of NGS technologies to detect genes and novel variants that may play an important role in cancer initiation, progression, and prognosis.

Aim : To evaluate the role of ultrasound biomicroscopy (UBM) in retinoblastoma (RB). Methods : Children with advanced unilateral RB were included. UBM was performed to look for tumour invasion into the anterior segment (AS) and for evaluation of quantitative parameters. Enucleation was done and UBM findings were correlated with histopathology. The main outcome measures were sensitivity and specificity of UBM for detecting AS invasion and comparison of quantitative parameters between the tumour affected and fellow eyes. Results : Fifty patients were evaluated. The mean age was 2.76 ± 1.63 years. Enucleation was performed in 50 eyes. The sensitivity and specificity of UBM for AS invasion were 80% (95% CI, 44-97%) and 95% (95% CI, 83-99%), respectively. UBM showed a sensitivity and specificity of 100% (95% CI, 59-100%) and 95% (95% CI, 84-99%), respectively, for iris invasion, 88% (95% CI, 47-100%) and 100% (95% CI, 92-100%), respectively, for ciliary body invasion, and 63% (95% CI, 24-91%) and 100% (95% CI, 92-100%), respectively, for anterior chamber (AC) angle invasion. Quantitative parameters were studied in 100 eyes. As compared to the fellow eyes, the AC angle was narrow ( p < 0.05), posterior chamber was shallow ( p = 0.004) and zonular length was increased ( p = 0.001) in RB eyes. Conclusion : This clinicopathological study provides valuable insights into the role of UBM for evaluation of anterior extension of RB and for assessment of architectural changes in the AS due to the tumour.

Purpose: Extraocular retinoblastoma with optic nerve invasion is treated by a multimodal protocol consisting of neoadjuvant chemotherapy, enucleation, and adjuvant therapy. This study was conducted to evaluate the performance of magnetic resonance imaging (MRI) used for tumor restaging in these children after systemic chemotherapy administration., Methods: Contrast-enhanced MRI scan of orbits and brain was performed at diagnosis and patients were treated with neoadjuvant chemotherapy. After chemotherapy, MRI scan was repeated for tumor restaging and residual post-laminar thickening and/or enhancement of the affected optic nerve, if any, was recorded. MRI findings were correlated with histopathology in enucleated specimens. The main outcome measures were specificity, sensitivity, and accuracy of MRI in predicting post-laminar invasion after neoadjuvant chemotherapy., Results: A total of 46 eyes (46 patients) were studied. Optic nerve thickening on MRI had a sensitivity, specificity, and accuracy of 100% (95% Confidence Interval (CI): 64.6-100%), 76.9% (95% CI: 61.7-87.4%), and 80.4% (95% CI: 66.8-89.4%), respectively. Optic nerve enhancement had a sensitivity, specificity, and accuracy of 85.7% (95% CI: 48.7-97.4%), 79.5 % (95% CI: 64.5-89.2%), and 80.4% (95% CI: 66.8-89.4%), respectively. Combined thickening and enhancement of the optic nerve had a sensitivity, specificity, and accuracy of 100% (95% CI: 60.9-100%), 82.4% (95% CI: 66.5-91.7%), and 85% (95% CI: 70.9-92.9%), respectively., Conclusion: MRI is a valuable tool for restaging of retinoblastoma and predicting residual optic nerve disease after neoadjuvant chemotherapy. Combined thickening and enhancement on MRI appeared to be a more reliable indicator of post-laminar invasion as compared to thickening or enhancement alone.

Background: To report the management and clinical outcome of children with unsuspected retinoblastoma who underwent trabeculectomy surgery., Methods: Three children who presented to us after trabeculectomy surgery were diagnosed with retinoblastoma. They were treated with enucleation of the affected eye. Histopathology of the enucleated eyeball showed tumor infiltration into the iris and the ciliary body in two cases, and massive choroidal invasion in the third case. Six cycles of adjuvant systemic chemotherapy with carboplatin, vincristine and etoposide were given., Results: The follow-up ranged from 18-48 months. At last follow-up, all children were alive and well, with no local recurrence or systemic metastasis., Conclusions: The management of retinoblastoma with operated trabeculectomy is challenging due to risk of tumor dissemination. Timely intervention can result in good clinical outcome. Nevertheless, a meticulous posterior segment evaluation to rule out retinoblastoma in children presenting with buphthalmos or secondary glaucoma should always be considered.

Purpose: To evaluate the efficacy and safety of intracameral amphotericin B (ICAMB) in the management of fungal keratitis., Methods: In total, 45 eyes with smear-confirmed fungal keratitis with hypopyon were randomized into three treatment groups: Group I (topical antifungal treatment + oral antifungal); Group II (topical antifungal treatment + ICAMB + oral antifungal); and Group III (topical antifungal treatment + drainage of hypopyon + ICAMB + oral antifungal). The main outcome measures were treatment success rate, time to heal, visual acuity gain, and presence of complications., Results: There were no differences in the treatment success rates (p = 0.66), time to healing (p = 0.18), or mean final visual acuity (logMAR) (p = 0.8) between the three groups. The major complication observed was increased incidence of cataract in group III (40%), though it was statistically insignificant., Conclusions: ICAMB does not offer any benefit over topical antifungal therapy when performed alone or associated with drainage of hypopyon.

Purpose: Retinoblastoma is usually seen in children before 5 years of age. We report an unusual case of retinoblastoma in an adult who presented to us with an orbital mass., Methods: A 24 year-old-male presented to our centre with a history of protrusion of the right eye for 6 months, and associated loss of vision. Ultrasonography B-scan revealed an intraocular mass with calcification and MRI of the orbits showed extra-ocular spread. An incisional biopsy was taken from the orbital mass., Results: On biopsy, histopathologic features and immunohistochemical stains were consistent with retinoblastoma., Conclusion: To our knowledge, this is the first report of retinoblastoma presenting as an orbital mass in adulthood and highlights the importance of considering this tumour in the differential diagnosis of an intraocular mass with orbital extension in an adult patient.

Purpose: To describe the clinicopathologic features and management of an unusual case of orbital teratoma., Methods: A 7-year-old girl presented with a history of an orbital mass since birth. CT scan showed a large mass lesion involving the right orbit, with absence of the eyeball. An ectopic tooth was identified within the tumor. Lid-sparing exenteration surgery was performed., Results: Histopathologic examination of the excised mass showed presence of elements from all three germ layers, consistent with a diagnosis of mature orbital teratoma. Normal ocular structures were not identified on histopathology. At one year follow-up, there was no tumor recurrence., Conclusion: We report an extremely rare and interesting case of a mature orbital teratoma, which was associated with primary anophthalmos and an ectopic tooth.