Correlation of Levator-Muller's Complex Thickness on Ultrasound Biomicroscopy to Botulinum Toxin A Injection in Thyroid-Related Upper Eyelid Retraction.

OBJECTIVES: To study the thickness of levator palpebra superioris-Muller's muscle complex (LMC) on ultrasound biomicroscopy (UBM) and to correlate with the clinical response to botulinum toxin A (BTA) injection in patients with inactive-stage of thyroid-related upper eyelid retraction (UER). We also studied the correlation of clinical parameters, preinjection with postinjection values. METHODS: This was a prospective, interventional study. Patients with thyroid-related UER who underwent subconjunctival injection of BTA were recruited. Demographic data and clinical details were evaluated. UBM (50 MHz) was done to measure the thickness of LMC. Patient's satisfaction was graded at each follow-up. Follow-up was done at 1 week, 1 month, and 3 months' time intervals. RESULTS: A total of 13 patients were recruited and 26 eyes were divided into two groups; group 1 included eyes with UER (n = 17), and group 2 included eyes without UER (n = 9). There was a statistically significant reduction in margin reflex distance 1 (MRD1) after BTA injection at 1-week, 1-month, and 3-months follow-up with maximum reduction at 1 month. The mean LMC thickness of 26 eyes was 0.96 mm which was found to be significantly more than normal controls. On comparison of mean LMC thickness with the amount of UER and reduction in MRD1, we did not find a significant difference. CONCLUSIONS: Patients with TED have significantly thicker LMC on UBM than controls. Further studies are needed with a larger sample size on the correlation of UBM features of levator aponeurosis with response to BTA injection.

Vascular endothelial growth factor (VEGF) and hypoxia inducible factor-1 alpha (HIF-1ɑ) in lacrimal gland Adenoid cystic carcinoma: Correlation with clinical outcome.

PURPOSE: VEGF and HIF-1α are important regulators of angiogenesis, overexpressed in various tumors. Lacrimal gland Adenoid cystic carcinoma (ACC) is a malignant tumor whose angiogenic properties remain unexplored. This study was designed to evaluate the expression of HIF-1α and VEGF in lacrimal gland ACC. METHODS: VEGF and HIF-1α immunoexpression was undertaken in 30 lacrimal gland ACC cases. mRNA expression of VEGF and HIF-1α was analysed in 17 cases by quantitative real time PCR. The results obtained were correlated with clinicopathological features and survival of the patients to determine the prognostic significance. RESULTS: Immunoexpression of HIF-1α and VEGF was seen in 36.6% and 46.6% ACC cases. HIF-1α expression showed significant association with advanced T-stage (P = 0.001) and VEGF with intracranial extension (P = 0.014) and solid histological pattern (P = 0.045). HIF-1α mRNA expression was seen in 29.4% cases and showed significant association with perineural invasion (P = 0.027). Recurrence occurred in 60%, distant metastasis in 20% and death in 20% cases. Survival analysis revealed that patients with HIF-1α, VEGF immunoexpression, solid histological pattern, perineural invasion, bone erosion, intracranial extension, metastasis, advanced T-stage, and exenteration had poor survival. On multivariate analysis VEGF immunoexpression (hazard ratio, 16.785; 95% confidence interval, 1.872-150.495; P = 0.012) was the most significant poor prognostic factor. CONCLUSIONS: This study demonstrates that VEGF is a potential predictor for poor clinical outcome in lacrimal gland Adenoid cystic carcinoma.

Experience on rhino-orbital mucormycosis from a tertiary care hospital in the first wave of COVID-19: An Indian perspective.

Background: To highlight the clinical presentations and management outcomes of rhino-orbital mucormycosis during first wave of COVID-19 pandemic in North India. Methods: A retrospective observational study. 15 patients with mucormycosis (orbital disease) who presented during short span of 3 months (October-December 2020) in a tertiary-care referral institution were analysed. Results: At presentation, 13 of 15 patients had uncontrolled diabetes. Four had history of COVID-19 infection. All patients had advanced orbital disease with sinusitis; cavernous sinus involvement was in nine and intracranial spread in three patients. Liposomal amphotericin-B was started and prompt orbital exenteration with sinus surgery was performed in 12 patients. All 12 patients survived with an average follow-up of 4.8 months. Conclusion: In the present series, cases with orbital spread of mucormycosis were mostly found in non-COVID uncontrolled diabetics. Exenteration was done in 80% of cases with advanced orbital disease. Prevention and early detection of infection at the stage of sino-nasal involvement might help to prevent spread and/or halt the orbital disease.

Prognostic significance of PD-1/PD-L1 expression in uveal melanoma: correlation with tumor-infiltrating lymphocytes and clinicopathological parameters.

BACKGROUND: To understand how to improve the effect of immune checkpoint inhibitors in uveal melanoma (UM), we need a better understanding of the expression of PD-1 and PD-L1, their relation with the presence of tumor-infiltrating lymphocytes (TILs), and their prognostic relevance in UM patients. MATERIALS AND METHODS: Expression of PD-1 and PD-L1 was assessed in 71 UM tissue samples by immunohistochemistry and quantitative real-time PCR (qRT-PCR), and further validated by western blotting. The effect of interferon gamma (IFN-γ) on PD-1/PD-L1 expression was determined on four UM cell lines. RESULTS: Immunoreactivity of PD-1 was found in 30/71 cases and of PD-L1 in 44/71 UM samples. Tumor-infiltrating lymphocytes were found in 46% of UM tissues. PD-1 was expressed on TILs while tumor cells expressed PD-L1. UM with and without TILs showed expression of PD-1 in 69% and 18% cases, respectively (p = 0.001). Similarly, PD-L1 was found in 75% of UM with TILs and in 50% of cases without TILs, respectively (p = 0.03). DFS rate were lower in patients with TILs with expression of PD-1 and PD-L1, but the rate of DFS was higher with expression of PD-L1 in patients without TILs. After treatment of UM cell lines with IFN-γ, PD-1 expression was induced in all UM cell lines whereas PD-L1 expression was found at a lower level in untreated cells, while expression also increased following treatment with IFN-γ. CONCLUSION: Our study suggests that increased infiltration with TILs promotes the aggressive behavior and suppresses the immune response of UM cells, thereby inhibiting immunotherapy.

Bilateral Nodular Episcleritis: A Rare Presentation of Relapsing Polychondritis.

Herein, the authors report a case of relapsing polychondritis (RP) presenting as isolated bilateral nodular episcleritis. A 23-year-old male presented to us with bilateral large ocular surface masses for which he had received antitubercular medications. A workup was performed to rule out infective, neoplastic, and immune etiologies, after which the patient was then treated empirically with systemic steroids. No response to steroids was noted, so the lesions were removed surgically. On follow up, he developed redness of both ears sparing the lobules. A biopsy from ear lesions supported the diagnosis of RP. At a follow up of 2 years, the patient is free of any ocular or systemic manifestation. To the best of the authors' knowledge, this is the first reported case of RP presenting with bilateral giant nodular episcleritis and treated successfully with surgery. A multidisciplinary approach is essential for the management of such cases. A long-term close follow up is vital for early detection of associated malignancies like multiple myeloma.

Clinical relevance of the comparative expression of immune checkpoint markers with the clinicopathological findings in patients with primary and chemoreduced retinoblastoma.

PURPOSE: The goal of this study is to identify the pathological findings and expression of immune checkpoint marker (PD-1, PD-L1, and CTLA-4) in the tumor microenvironment of both primary and chemoreduced retinoblastoma and correlate them with clinicopathological parameters and patient outcome. METHODS: Total of 262 prospective cases was included prospectively in which 144 cases underwent primary enucleation and 118 cases received chemotherapy/radiotherapy before enucleation (chemoreduced retinoblastoma). Immunohistochemistry, qRT-PCR and western blotting were performed to evaluate the expression pattern of immune checkpoint markers in primary and chemoreduced retinoblastoma. RESULTS: Tumor microenvironment were different for both primary and chemoreduced retinoblastoma. Expression of PD-1 was found in 29/144 (20.13%) and 48/118 (40.67%) in primary and chemoreduced retinoblastoma, respectively, whereas PD-L1 was expressed in 46/144 (31.94%) and 22/118 (18.64%) in cases of primary and chemoreduced retinoblastoma, respectively. Expression pattern of CTLA-4 protein was similar in both groups of retinoblastoma. On multivariate analysis, massive choroidal invasion, bilaterality and PD-L1 expression (p = 0.034) were found to be statistically significant factors in primary retinoblastoma, whereas PD-1 expression (p = 0.015) and foamy macrophages were significant factors in chemoreduced retinoblastoma. Overall survival was reduced in cases of PD-L1 (80.76%) expressed primary retinoblastoma, and PD-1 (63.28%) expressed chemoreduced retinoblastoma. CONCLUSIONS: This is the first of its kind study predicting a relevant role of the immune checkpoint markers in both groups of primary and chemoreduced retinoblastoma with prognostic significance. Differential expression of these markers in both group of retinoblastoma is a novel finding and might be an interesting and beneficial target for chemoresistant tumors.

Epithelial-Myoepithelial Carcinoma of the Lacrimal Gland: Case Report of Youngest Patient.

The authors report a case of extremely uncommon malignancy of lacrimal gland epithelial-myoepithelial carcinoma. This carcinoma is more commonly encountered in salivary glands and comprises 1% of all salivary gland tumors. Its occurrence in the orbit is very rare with only 6 cases reported in the literature, most of which arose in a pleomorphic adenoma. Epithelial-myoepithelial carcinoma is primarily a tumor of older adults, with a peak incidence in the sixth and seventh decades of life. The present case is the youngest patient reported to date and had no history of preexisting neoplasm in the lacrimal gland. Histological diagnosis of epithelial-myoepithelial carcinoma is challenging because of the similarity with other lacrimal gland epithelial tumors like malignant adenoid cystic carcinoma and benign pleomorphic adenomas.

Clinicopathological relevance of NFκB1/p50 nuclear immunoreactivity and its relationship with the inflammatory environment of uveal melanoma.

PURPOSE: To analyze the activation of NFκB1/p50 in the inflammatory and non-inflammatory environment of uveal melanoma and its association with clinicopathological factors and patient outcome. METHODS: Activation of NFκB1/p50 was evaluated in 75 cases of uveal melanoma by immunohistochemistry. mRNA expression in 58 fresh UM specimen was measured by quantitative reverse-transcriptase PCR (qRT-PCR). Western blotting was performed to validate the immunohistochemistry results in representative cases. RESULTS: Forty-five cases showed both cytoplasmic and nuclear immunoreactivity of NFκB1/p50. Increased level of NFκB1/p50 activation was more frequent in the inflammatory environment group as compared to non-inflammatory environment group at both transcriptional and translational level. In multivariate analysis, infiltrating macrophages and nuclear immunoreactivity of NFκB1/p50 (p < .05) in tumor cells were found to be an independent prognostic factor for poor survival. CONCLUSION: Our results suggest that nuclear immunoreactivity NFκB1/p50 may serve as a useful marker in assessing the prognosis of uveal melanoma patients.

A study of changes in levator muscle in congenital ptosis.

PURPOSE: To study microscopic and ultrastructural changes of levator palpebrae superioris (LPS) muscle in congenital ptosis. METHODS: In this prospective observational study, LPS muscle was studied in 77 eyelids with congenital ptosis; 35-simple congenital ptosis (SCP), 12-Marcus Gunn jaw winking phenomenon (MGJWP), and 30-blepharophimosis epicanthus inversus syndrome (BPES). Light microscopy, enzyme histochemistry, immunohistochemistry and electron microscopy were performed, and results were analyzed. RESULTS: Muscle fibers were detected in 83.33% of MGJWP, 22.86% of SCP and 16.67% of BPES eyelids. Fibers were detected significantly more in individuals with moderate ptosis, LPS action > 4 mm, present eyelid crease and eyelid fold. Severe endomysial and perimysial fibrosis was seen significantly more in individuals with MGJWP. Fat infiltration and nuclei internalization were seen in all three groups. The absence of degenerating or regenerating fibers and inflammatory cells, normal staining pattern on immunohistochemistry and absence of accumulation of any abnormal substance were found in all three groups. Abnormal mitochondrial staining pattern was seen occasionally in three groups. On electron microscopy, muscle was detected in 1 SCP eyelid and 8 MGJWP eyelids out of which 4 had myofibrillary disruption. All other eyelids where muscle fibers were not detected had only fibrocollagenous tissue. CONCLUSION: Fibrocollagenous tissue predominated in all the cases, and muscle fibers detected correlated inversely with the severity of ptosis. The absence of degenerating, regenerating fibers and inflammatory cells supported the theory of dysgenesis of muscle. However, internalization of nucleus seen in all the subtypes is a feature favoring dystrophy.

Isolated severe microblepharon in a neonate: a rare case.

PURPOSE: To report a rare case of isolated severe microblepharon in a neonate. METHODS: A 27 days old male child was brought by parents with redness, photophobia and discharge for two weeks. Thorough ophthalmological and systemic examination was performed. RESULTS: The diagnosis of isolated severe microblepharon with infectious keratitis was made. After the appropriate management of infectious keratitis and achieving complete resolution, the child was subjected to bilateral lid reconstruction was done in the form of upper lid skin grafting and tarsorrhaphy and the patient is being followed up. CONCLUSION: A rare case of bilateral isolated severe microblepharon affecting all four eyelids is being reported. Urgent surgical intervention is recommended in such cases in order to achieve good corneal coverage which results in faster healing of infective keratitis and a good visual outcome.

Invasive Ocular Surface Squamous Neoplasia Masquerading as Nodular Scleritis.

The authors report a rare case of ocular surface squamous neoplasia with intraocular involvement that had an initial masquerade presentation of recurrent anterior nodular scleritis. A 35-year-old male patient presented with right eye recurrent anterior nodular scleritis for which a lamellar patch graft was done. Two months later, the patient presented with recurrence of symptoms. Histopathology review revealed the presence of well-differentiated squamous cell malignancy. A high index of suspicion for malignancy is required in such cases when they do not respond to conventional therapy.

Uveal melanoma.

Uveal melanoma is the most common primary intraocular malignancy in adults. It is associated with a high rate of distant tumor spread and consequent mortality. Unlike retinoblastoma, for which treatment advances over the last few decades have resulted in a dramatic improvement in survival, outcomes for patients with uveal melanoma remain unchanged. Despite improvement in local control of this tumor, roughly 50% of patients develop metastatic disease within 15 years. Delays in diagnosis and marked vascularity of this tumor may underlie that situation. Tumor size, location, histopathologic appearance, cytogenetic abnormalities, and molecular profiling are used in prognostication. The revised 7th edition of the American Joint Committee on Cancer (AJCC) manual has presented new information that may improve that process as well. Herein, we review current knowledge on uveal melanoma.

Lateral eyelid rotation flap: a novel technique for reconstruction of full thickness eyelid defect.

The purpose of this study was to study anatomical, functional, and cosmetic outcomes of a novel technique, 'Lateral Eyelid Rotation Flap' for reconstruction of full thickness eyelid defect. In this prospective interventional study, 10 patients with full thickness eyelid defect measuring 1/2-2/3rd of eyelid width were included. Eyelid reconstruction was performed by single surgeon, using lateral eyelid rotation flap. Anatomic outcome was assessed by analyzing horizontal and vertical palpebral apertures (HPA and VPA), eyelid contour, and lateral canthus. Functional outcome was assessed by measuring tear film break-up time (TBUT) and Schirmer's test in both the eyes. Cosmetic outcome was evaluated by patients. Median age of patients was 56 years. Nine cases had full thickness defect following the excision of eyelid malignancy. The mean horizontal defect size was 17 ± 4.2 mm. HPA did not change significantly after surgery. VPA was statistically comparable to contralateral eye at 1-month follow-up. Lateral canthus angle recovered by 3rd month after surgery. TBUT and Schirmer's tests were comparable to contralateral eye. Eight patients graded cosmetic outcome as good to excellent. This is a new, single-stage technique for reconstruction of full thickness eyelid defects, with full thickness eyelid tissue including margin.

Orbital schwannoma: a clinicopathologic study.

The aim of the study was to study the clinical, radiological and histopathological characteristics of orbital schwannomas. It is a retrospective study conducted at a tertiary eye care hospital. A review of histopathological records of the orbital tumors operated between 1993 and 2011 was done. The clinical, imaging and histopathological details of cases of orbital schwannoma were analyzed. Forty-nine cases of orbital schwannomas identified. The age ranged from 8 to 65 years with a female preponderance. The median duration of symptoms was 3 years. Computed tomography findings varied from a hypodense to hyperdense lesion with nil to marked contrast enhancement. USG demonstrated a defined lesion with variable internal reflectivity. Varied proportions of Antoni A and Antoni B areas were found on histopathology of the masses. Hypodense or cystic areas on imaging significantly correlated with Antoni B areas on histopathology. Orbital schwannoma is a rare tumor. The incidence of schwannoma in our institution is 6.5 %. Variable imaging features were found. The definite diagnosis can be established on the basis of histopathological and immunohistochemical studies.

Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia.

PURPOSE: Retinoblastoma (RB) is the most common intraocular tumor in pediatric age group. The role of genetics has been explored in predicting survival prognosis, but its role in predicting globe salvage remains largely unexplored. We hereby aim to isolate cell-free DNA (cfDNA) from aqueous humor (AH) in RB eyes and validate its use for genetic studies. METHODS: AH was obtained from 26 eyes undergoing enucleation (arm A) or intravitreal chemotherapy (arm B). Isolation of cfDNA was done using QIAamp ® Circulating Nucleic Acid kit, and the cfDNA was utilized for targeted sequencing of RB1 gene. RESULTS: We could isolate cfDNA in all eyes (72% unilateral and 28% bilateral) with a distribution peak between 140 and 160 bp and a mean concentration of 27.75 ng/µl for arm A and 14 ng/µl for arm B. Targeted sequencing done on four samples showed RB1 gene mutations, namely, inframe deletion (c. 78-80del, p.Pro29del), start-loss mutation (c.1A>T, p.Met1?), nonsense mutations (c.2236G>T, p.Glu746Ter), (c.1659T>A, p.Cys553Ter), and (c.2065C>T, p.Gln689Ter), and novel missense mutations (c.672C>A, p.Asp224Glu) and c.692C>T (p.Pro231Leu). Genetic profile of cfDNA extracted from AH and genomic DNA from the tumor tissue was comparable. CONCLUSION: Our study supports the previous reports that AH may be used as a source of tumor-derived cfDNA. This is the first report from South Asia on isolation and genetic analysis of cfDNA from AH of RB eyes and, therefore, a big step forward in paving the role of tumor genetics in RB. Further studies are required to elucidate concordance between the tumor and AH genetic profile.

Receptor tyrosine kinase gene expression profiling of orbital rhabdomyosarcoma unveils MET as a potential biomarker and therapeutic target.

Receptor tyrosine kinases (RTKs) serve as molecular targets for the development of novel personalized therapies in many malignancies. In the present study, expression pattern of receptor tyrosine kinases and its clinical significance in orbital RMS has been explored. Eighteen patients with histopathologically confirmed orbital RMS formed part of this study. Comprehensive q-PCR gene expression profiles of 19 RTKs were generated in the cases and controls. The patients were followed up for 59.53 ± 20.93 years. Clustering and statistical analysis tools were applied to identify the significant combination of RTKs associated with orbital rhabdomyosarcoma patients. mRNA overexpression of RTKs which included MET, AXL, EGFR was seen in 60-80% of cases; EGFR3, IGFR2, FGFR1, RET, PDGFR1, VEGFR2, PDGFR2 in 30-60% of cases; and EGFR4, FGFR3,VEGFR3 and ROS,IGFR1, EGFR1, FGFR2, VEGFR1 in 10-30% of cases. Immunoexpression of MET was seen in 89% of cases. A significant association was seen between MET mRNA and its protein expression. In all the cases MET gene expression was associated with worst overall survival (P = 0.03).There was a significant correlation of MET mRNA expression with RET, ROS, AXL, FGFR1, FGFR3, PDGFR1, IGFR1, VEGFR2, and EGFR3 genes. Association between MET gene and collective expression of RTKs was further evaluated by semi-supervised gene cluster analysis and Principal component analysis, which showed well-separated tumor clusters. MET gene overexpression could be a useful biomarker for identifying high risk orbital rhabdomyosarcoma patients. Well-separated tumor clusters confirmed the association between MET gene and collective expression of RTK genes. Therefore, the therapeutic potential of multi-kinase inhibitors targeting MET and the 9 other significant RTKs needs to be explored.

Baseline and Post-NACT Imaging in Retinoblastoma With Optic Nerve Involvement: Can MRI Predict Prognosis?

PURPOSE: To describe a staging system for optic nerve invasion using magnetic resonance imaging (MRI) and report any correlation with survival outcome. METHODS: This was a ambispective study. Twenty-one patients with retinoblastoma who had optic nerve involvement on MRI were staged at baseline based on contrast enhancement and/or thickening and length of involvement. Response to neoadjuvant chemotherapy (NACT) was noted according to proposed response evaluation criteria and results were correlated with survival outcome. RESULTS: Baseline MRI staging was able to predict event-free survival (EFS) (P = .0015) using the log-rank test for trends. Patients with optic nerve enhancement alone showed 100% survival prognosis. Optic nerve thickening cases with complete or partial response to NACT showed better EFS (P > .90) than those with stable disease according to response evaluation criteria. CONCLUSIONS: The modified staging system for optic nerve invasion used in the current study significantly predicted EFS. The study also showed that response to NACT may be affected by baseline staging. The authors recommend that cases with optic nerve enhancement only, irrespective of the length of involvement (stage 0), may be treated with upfront enucleation. Cases with optic nerve thickening may be staged to evaluate the correlation with survival outcome in a larger cohort in future studies. [J Pediatr Ophthalmol Strabismus. 2024;61(2):98-105.].

Clinicodemographic profile of orbital exenteration in a tertiary eye care center - A 20-year experience.

PURPOSE: This study aimed to determine the clinical indications for orbital exenteration, demographic profile of these patients, and clinicopathologic correlations in the current times and to compare these results with previous published data. METHODS: It was a retrospective study. All exenterations performed at a tertiary eye care center over a period of 20 years (from January 2001 to June 2020) were retrospectively evaluated. Patient records were reviewed to obtain demographic data, presenting symptoms and their duration, laterality, and clinical and histopathologic diagnosis. RESULTS: A total of 352 cases (males:females = 222:130) who underwent exenteration were identified. Patients age ranged from 11 months to 87 years (mean: 43.86 years, median: 50 years). The most common indication for exenteration was found to be eyelid malignancy in 54.36%, followed by retinoblastoma in 18.75% and primary orbital tumors in 14.49%. Out of 156 cases of eyelid malignancies requiring exenteration, squamous cell carcinoma (SCC) was the most common histologic subtype ( n = 94, 60.26%), followed by sebaceous gland carcinoma ( n = 40, 25.64%) and basal cell carcinoma ( n = 20, 12.82%). The most common primary orbital tumors requiring exenteration were adenocystic carcinoma of the lacrimal gland in adults and rhabdomyosarcoma in the pediatric age group. Benign conditions requiring exenteration included fulminant fungal orbital infections and lymphangioma among others. CONCLUSION: The number of exenterations performed have significantly increased in terms of absolute numbers. However, the ratio of exenteration to other tumor-related surgeries, mainly excision biopsy, has reduced compared to that reported from a previous study. The most common indication in our study remains eyelid malignancy followed by intraocular malignancy. However, SCC has emerged as the most common tumor histologic subtype requiring exenterations.

Management of Intraocular Retinoblastoma: ICMR Consensus Guidelines.

Retinoblastoma (RB) is the most common childhood intraocular malignancy. Delayed presentation due to a lack of awareness and advanced intraocular tumors are a common scenario in low-middle income countries (LMICs). Remarkable treatment advances have been made in the past few decades allowing globe salvage in advanced intraocular RB (IORB) including systemic chemotherapy with focal consolidation and targeted treatments like intraarterial chemotherapy and intravitreal chemotherapy. However, a lack of availability and affordability limits the use of such advances in LMICs. External beam radiotherapy, despite risk of second cancers in RB with germline mutations, still remains useful for recalcitrant RB not responding to any other treatment. When choosing conservative treatment for advanced IORB, the cost and long duration of treatment, morbidity from multiple evaluation under anesthesias (EUAs), side effects of treatment and risk of treatment failure need to be taken into account and discussed with the parents. In this article, the authors discuss the ICMR consensus guidelines on the management of IORB.

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.