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Retinoblastoma (RB) is 3% of all childhood cancer. It is the first tumor suppressor gene decoded in human being. Pathology of RB is important and a lot of advances were made in the past decade on this childhood cancer. Tumor genetics on RB and understanding the histopathological high-risk factors were highlighted here. New rosette of retinoblastoma by the author and its molecular interpretations along with RB seeds were discussed extensively. This review chapter highlights newer molecular pathology scope with potential biomarkers involving RB.

Purpose: To study the usefulness of sodium fluorescein dye for staining raw specimens in ophthalmic pathology. Methods: Laboratory-based observational study. Eye specimens received in the ocular pathology department of a tertiary eye care center in northeast India were included in the study after obtaining the informed consent. The study period was from 2016 to 2019. Specimens received were a corneal button, lid, orbital tissues, enucleated eyeballs, eviscerated eye, explanted intraocular lens (IOLs), optic nerve and ocular parasites. Sections of the gross specimens were stained with sodium fluorescein (C20H12O5NA) dye. The average duration of tissue-stain contact time was 45 s. The sections were analyzed under the compound microscope. The intensity of illumination of the microscope was modulated to obtain high contrast digital photographs. Results: 26 corneal buttons with or without limbal tissue specimens were analyzed with fluorescein staining procedure; limbus with its pigmented cells were seen in the enucleated eyeballs. 33 enucleated eyes (retinoblastoma [RB] (n = 24), phthisical eyes (n = 4), choroidal melanomas (n = 2), and others (n = 3) were included in the study cohort. In these 33 enucleated eyes, vitreous were also examined for the presence of hyalocytes and other pathological cells. Retinal pigment epithelial cells were also seen (n = 11). RB seeds were seen with fluorescein stain and documented in 14 specimens. The RB seeds were mostly in vitreous (n = 9) and subretinal space (n = 5). Fat cells (n = 8) from orbital tissues and sebaceous cells (n = 5) from frozen section specimens were also observed and documented. Conclusion: This study highlights a novel method of rapid staining of gross ophthalmic pathology specimens.

Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-ophthalmos, microcornea, inferior iris coloboma with suspected retinochoroidal coloboma in right eye (OD). Ultrasound B scan of OD was done which confirmed the above findings along with the presence of membranous echoes attached to the disc. On MRI of right orbit, retinal detachment with colobomatous cyst in the posterior aspect of the eyeball was present. OD was enucleated with parenteral consent and silicon ball and socket reconstruction was done. We thereafter examined the enucleated eyeball grossly as well as by histopathological examination. Herein, we present the pathological features of a case of persistent fetal vasculature (PFV) supported by gross and microscopic examination with a special emphasis on the presence of colobomatous cystic optic disc in a micro-ophthalmic eye. Conclusion: This is one of the rare associations of PFV making this original report a unique one.

Newly described retinoblastoma (RB) rosettes have various kinds of pathological significance. Some of their characteristics have been revealed in this immunohistochemistry study. Five paraffin-embedded eyeballs with RB and new rosettes were studied for neuron-specific enolase (NSE), p53, p16, BAX, c-Myc, glial fibrillary acidic protein, synaptophysin, and chromogranin. They were compared and interpreted using control specimens. NSE, P53, and P16 were significantly expressed in the cells of the new rosettes. The presence of new RB rosettes that mostly have histopathological high-risk factors and p53 positivity may be a strong marker of poor prognosis of RB.

Retinoblastoma the most common primary malignant intraocular tumor of childhood has been previously associated with neovascularisation of the iris and retina New vessel formation in the crystalline lens is an extremely rare entity in association with retinoblastoma In the present case we describe such a case with new rosettes and histopathological high risk factors with detailed pathological and histological documentations

We describe a case of a 13-year-old male patient of Coats' disease who developed sympathetic ophthalmia (SO) following contact diode laser cyclophotocoagulation. There was no history of invasive surgery or any perforating injuries preceding cyclodestructive therapy. The eye had neovascular glaucoma secondary to Coats' disease, which was treated once with contact cyclophotocoagulation. Subsequently, the intraocular pressure slowly decreased, and the eye became phthisical. Intraocular inflammation developed in the fellow eye and SO was suspected, which was confirmed by characteristic findings seen on fluorescein angiography. The case was successfully managed with the help of topical and systemic immunosuppression. Enucleation with silicone ball implantation was performed in the right phthisical eye and specimen was sent for histopathological examination. Histopathology and immunostaining supported the diagnosis of SO.

To present the profile of patients with ocular and adnexal tumours presenting at a tertiary eye care institute in northeast India in ten years between 2003 and 2013.Hospital based retrospective review of medical records.The clinical history, site of involvement and pathological diagnoses were retrieved from ocular pathology registers from October 2003-October 2013. This included conjunctival, orbital, adnexal and intraocular tumours. All specimens were fixed, processed and stained. Immunohistochemistry was carried out where ever indicated to come to a final diagnosis.In all 1003 cases were included in our study, with 622 (62.01%) benign tumours and 381 (37.98%) malignant tumours. 54.63% were males and 45.36% were females. Amongst the conjunctival tumours, squamous cell carcinoma (SCC) (72.5%) and nevus (39.6%) were the most common malignant and benign tumour, respectively. Non-Hodgkin's lymphoma (NHL) (60%) was the most common malignant orbital tumour. Retinoblastoma (RB) (81.5%) was the most common intraocular malignancy, followed by melanoma (18.4%). Basal cell carcinoma (BCC) (35.1%) was the most common malignancy in the lid.NHL and SCC were the most frequently seen malignant tumours in adults while RB was the most common intraocular tumour in children.

Parasitic zoonotic diseases are prevalent in India, including the northeastern states. Proper epidemiological data are lacking from this part of the country on zoonotic parasitic diseases, and newer diseases are emerging in the current scenario. Systemic manifestation of such diseases as cysticercosis, paragonimiasis, hydatidosis, and toxoplasmosis are fairly common. The incidence of acquired toxoplasmal infection is showing an increasing trend in association with acquired immunodeficiency syndrome. Among the ocular parasitic diseases, toxoplasmosis, cysticercosis, toxocariasis, dirofilariasis, gnathostomiasis, hydatidosis, amebiasis, giardiasis, etc, are the real problems that are seen in this subset of the population. Therefore, proper coordination between various medical specialities, including veterinary science and other governing bodies, is needed for better and more effective strategic planning to control zoonoses.

Retinoblastoma has varied presentations. As age advances in retinoblastoma, the undifferentiated tumour is the common appearance. Apoptosis in retinoblastoma in an untreated case can give us a clue about the tumour biology. Efferocytosis in intraocular tumour is a new concept which was seen in an enucleated eyeball specimen in a 4-year-old boy. Effective efferocytosis can be conceptualized for new pharmacodynamics application for anti-cancer drugs. We present a rare case of retinoblastoma with efferocytosis in retinal pigment epithelium and interesting apoptotic changes.

Parasites are a group of eukaryotic organisms that may be free-living or form a symbiotic or parasitic relationship with the hosts. Consisting of over 800,000 recognized species, parasites may be unicellular (Protozoa) or multicellular (helminths and arthropods). The association of parasites with human population started long before the emergence of civilization. Parasitic zoonotic diseases are prevalent worldwide including India. Appropriate epidemiological data are lacking on existing zoonotic parasitic diseases, and newer diseases are emerging in our scenario. Systemic diseases such as cysticercosis, paragonimiasis, hydatidosis, and toxoplasmosis are fairly common. Acquired Toxoplasma infections are rising in immune-deficient individuals. Amongst the ocular parasitic diseases, various protozoas such as Cystoidea, trematodes, tissue flagellates, sporozoas etc. affect humans in general and eyes in particular, in different parts of the world. These zoonoses seem to be a real health related problem globally. Recent intensification of research throughout the world has led to specialization in biological fields, creating a conducive situation for researchers interested in this subject. The basics of parasitology lie in morphology, pathology, and with recent updates in molecular parasitology, the scope has extended further. The current review is to address the recent update in ophthalmic parasites with special reference to pathology and give a glimpse of further research in this field.

Cavernous hemangioma is the most common orbital tumor in adult. There is lot of literatures for clinicopathological features of this tumor. These tumors had been studied for the model of angiogenesis in many of the experimental setups. We present a case of 34-year-old male with this tumor in the left eye with computerized tomography evidence. Postsurgical laboratory findings gave interesting evidence of tumor angiogenesis with tumor endothelial cells and sprouting of the small vessels endothelial cells. Podosome rosette could be conceptualized from the characteristic patterns seen in the tumor.

Purpose: To present histopathological and immunohistochemical analysis of idiopathic inflammatory diseases of orbit and ocular adnexa. Methods: Design- A retrospective laboratory-based study. The study was carried out in an ocular pathology laboratory in a tertiary institute of northeast India where analysis of 93 cases was done in 5 years, during the period from 2011 to 2016. Hematoxylin--eosin and special stains were done for the diagnoses. Immunohistochemistry (IHC) panel was also carried out. For infectious pathology, Grocott's methenamine silver (GMS) stain for fungus, tissue Gram's stain for bacteria's, and acid-fast stains for tubercular bacilli were done. IHC panels were done for CD 20 (B-cells), CD-3 (T-cells), CD-45 (Leukocyte common antigen, LCA), BCL-2, CD-138 (Plasma cells), Kappa, Lambda, IgG-4 in tissue, IgG-4 in serum, etc. IHCs were done using kit methods (standardized) and adequate controls were taken for each sample. Results: 93 cases of nonspecific orbital inflammation were reported out of 1,467 specimens. Orbital pseudotumors (idiopathic orbital inflammatory disease, IOID) were seen in 27 cases (sclerosing variety-6); benign lymphoid hyperplasia in two cases; reactive lymphoid hyperplasia in 10 cases; atypical plasma lymphoproliferative reactive (polyclonal immunophenotypically, IgG4 negative) lesions in four cases; IgG-4 related disease in one case; nonspecific inflammatory reactions (conjunctiva, sclera, and lid) in 49 cases. In all the diagnoses, infections and lymphomas were excluded. Conclusion: Biopsy supported study on nonspecific orbital inflammation was important to know the pattern.

Background & objectives: Ocular and adnexal tumours are important causes of morbidity in India and globally. Immunohistochemistry (IHC) is a vital molecular pathology tool, which helps to diagnose a tumour with more accuracy. The present study was undertaken to document the profile of ocular and adnexal tumour with IHC at a tertiary eye care center in Northeast India. Methods: This was a prospective and laboratory-based study. Histopathological and IHC study of the ocular and adnexal tumour was carried out from 2012 to 2014. Selection of pathological cases was made on the result of the histological diagnosis. All samples were subjected to IHC using kits for different antibodies as per indications. Results: In total, 645 tumours were included in our study, with 449 benign conditions and 196 were malignant tumours. Total IHCs were done in 87 tumours and 238 of antibodies were used. Non-Hodgkin's lymphomas (B-cell, low-to-intermediate type and mucosal-associated lymphoid tumours) were the most common tumor. Interpretation & conclusions: Clinical utility of the IHCs in different ophthalmic tumours can enable pathologists to make an accurate diagnosis and thus help in the overall management of the patient care. IHC may be carried out using various methods and some of the methods practiced are time consuming and tedious. In this study, kit methods were used which were found to be simpler and less time-consuming.

Arachnoid cysts are collection of cerebrospinal fluid contained inside a cavity lined by leptomeninges. It constitutes 1% of all intracranial tumours mostly present in the middle cranial fossa. Retrobulbar arachnoid cyst in elderly persons are a rare occurrence. We report a rare case of retrobulbar arachnoid cyst with ophthalmic manifestations and its effective management. CT-guided aspiration of the cyst and subsequent cytological and biochemical test revealed an arachnoid cyst. Patient is on a 5-year follow up without recurrence and improvement of the vision in the affected eye.

Primitive neuroectodermal tumor (PNET) is a small round cell malignant tumor of neuroectodermal origin. Most of the PNETs occur in the central nervous system (CNS). PNETs recognized outside of CNS are diagnosed as peripheral PNET (pPNET). This tumor which expresses MIC-2 gene (CD99) seems to be least aggressive after complete tumor resection. We describe a rare case of PNET in a young girl.

We present the clinical profile of biopsy and immunohistochemistry-proven ocular adnexal lymphomas in the Northeast Indian population. Nineteen patients between October 2004 and June 2006 with ocular adnexal lymphoma were analyzed retrospectively. Histopathological classification was done according to international working formulation. Twelve patients were male and seven were female. All were diagnosed as non-Hodgkin′s lymphoma and the majority were B cell type (89%). Most of the cases (42%)were treated with radiotherapy followed by chemotherapy.

Blunt trauma is the most common cause of posterior dislocation of the crystalline lens. We describe a rare case of subretinal migration of crystalline lens through the giant retinal tear following blunt ocular trauma. This incidental finding of subretinal dislocation of lens following blunt ocular trauma was confirmed on histopathological examination of the enucleated eye. This complication has not been described by histopathological examination in literature so far.

PURPOSE To report a case of localized subconjunctival urate crystals in a patient with gout. DESIGN Single observational case report. METHODS Case report. RESULTS An 80-year-old woman who came for cataract surgery was incidentally found to have subconjunctival crystal deposits near the superior limbus in her left eye (OS). She was taking medications for gout and hypertension. Multiple conjunctival crystals were excised from the area before cataract surgery. Light microscopy under polarization revealed crystals, and histopathological examination confirmed gouty tophi. CONCLUSION Because subconjunctival urate crystals occur only rarely, ophthalmologists should be aware of this potential, particularly in patients with gout.

Immunoglobulin G4 (IgG4-related diseases) affects various tissues and organs of the human body. Orbital, adnexal, and scleral inflammations were already reported in the medical literature. To the best of our knowledge, we report the first case of intraocular IgG4-associated inflammatory mass in the ciliary body mimicking as a melanoma in a 23-year-old female from Northeast India. Characteristic histopathology, immunohistochemistry in the tissue, protein chemistry, and raised serum IgG4 were supportive for the diagnosis. As this newly diagnosed disease has multi-organ affection and little is known about its pathogenesis particularly in eye and adnexa, the present case will open many challenges in clinico-pathological diagnosis and research in the future.

Retinoblastoma, the most common primary malignant intraocular tumor of childhood is a great success story in pediatric and ocular oncology. Pathology of retinoblastoma is important to guide the treatment modalities. Differentiated retinoblastoma is commonly seen in younger age group. Since a hundred years, we have been observing two typical true rosettes in retinoblastoma in the form of Flexner-Wintersteiner (FW) and Homer Wright (HW) rosettes and in many occasions pseudorosettes have been documented. In the present case report, a third new type of rosette was identified in a differentiated retinoblastoma which had an unusual anterior segment involvement.

Cysticercosis is one of the most common parasitic infestations in humans. Neurocysticercosis (NCC) is the commonest parasitosis of the central nervous system (CNS), endemic in developing countries and is also seen in developed nations with high rates of immigration from prevalent areas. Co-infection of ocular tissue is also significant and often ophthalmologists come across these lesions in their clinical practice. The mode of treatment in NCC and that of intraocular cysticercosis is somewhat different as far as antiparasitic treatment is concerned. This case report highlights the proper management of this parasitic infestation which involved both eye and brain.