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Purpose: To report a rare case of primary localized lacrimal gland amyloidosis and present a detailed review of the literature. Method: A 72-year-old woman presented with painless mass of 3 years' duration in the supero-temporal left orbit arising from the lacrimal gland. The patient underwent an excision biopsy and a further systemic workup and was diagnosed to have a primary, localized lacrimal gland amyloidosis. Only 18 cases have been reported in the literature. Based on the published cases and the present case, the clinical profiles, radiological features, and outcomes of this infrequent entity are discussed. Conclusion: Lacrimal gland amyloidosis, although rare, should be a differential diagnosis for a lacrimal gland mass, especially in elderly females. Review of the literature provides a clearer understanding of the presentations and management. [ABSTRACT FROM AUTHOR]

To understand the response of oral epithelial cells, transplanted on corneal surface to the ocular cues in vivo. The corneal button obtained after penetrating keratoplasty (PK) of an eye of a patient with total limbal stem cell deficiency (LSCD), previously treated with cultured oral mucosal epithelial transplantation (COMET) was examined by immunohistochemistry for the expression of keratins, p63, p75, PAX6, Ki-67, CD31, and CD34. COMET followed by optical-PK has improved visual acuity to 20/40 and rendered a stable ocular surface. The excised corneal tissue showed the presence of stratified epithelium with vasculatures. The epithelial cells of the corneal button expressed K3, K19, Ki-67, p63, p75 and the cornea-specific PAX6 and K12. This study confirms that the oral cells, transplanted to corneal surface, survive and stably reconstruct the ocular surface. They maintain their stemness at the ectopic site and acquire some of the corneal epithelial-like characters. [ABSTRACT FROM AUTHOR]

Background: Cultivated limbal epithelium for reconstruction of corneal surface is a well-established procedure; however, it is not adequate for damage which also extensively involves the conjunctiva. In severe cases of ocular surface damage that warrant additional conjunctival transplantation apart from cultivated limbal stem cell transplantation, we describe the long-term survival of a novel method of cocultivating autologous limbal and conjunctival epithelium on a single substrate. Materials and Methods: Forty eyes of 39 patients with severe limbal stem cell deficiency and conjunctival scarring or symblepharon underwent transplantation of autologous cocultivated epithelium on human amniotic membrane. A ring barrier was used to segregate the central limbal and peripheral conjunctival epithelia in vitro. Patients were followed up at regular intervals to assess stability of the ocular surface, defined by absence of conjunctivalization into the central 4 mm of the cornea and absence of diffuse fluorescein staining. Penetrating keratoplasty (PKP) was subsequently performed, where indicated, in patients with surface stability. Results: The cumulative survival probability was 60% at 1 year and 45% at 4 years by Kaplan-Meier analysis (mean follow-up duration: 33 ± 29 months, range: 1-87 months). Best-corrected visual acuity improved to greater than 20/200 in 38% eyes at the last follow-up, compared with 5% eyes before surgery. Immunohistochemistry in five of the corneal buttons excised for PKP showed an epithelial phenotype similar to cornea in all five. Conclusions: Synchronous use of cultured limbal and conjunctival epithelium offers a feasible alternative and a simpler one-step surgical approach to treat severe ocular surface disorders involving limbus and conjunctiva. [ABSTRACT FROM AUTHOR]

One of the most frequent types of corneal specimen that we received in our pathology laboratory is an excised corneal tissue following keratoplasty. Several of these cases are due to corneal infections or the sequelae, like corneal scar. Advances in the histological and molecular diagnosis of corneal infections and inflammations have resulted in rapid and accurate diagnosis of the infectious agent and in the overall understanding of the mechanisms in inflammatory diseases of the cornea. This review provides an update of histopathological findings in various corneal infections and inflammations. [ABSTRACT FROM AUTHOR]

Purpose: To describe the autofluorescent features of retinoblastomas after treatment. Methods: Standard fundus photography and autofluorescence (AF) photography (580 nm excitation, 695 nm barrier filter) were performed on 88 tumors of 61 patients. Clinical features were correlated with autofluorescent features. Results: The mean patient age at AF was 10.3 years. Of the 88 tumors, 5 (6%) were untreated, and 83 (94%) were treated. The untreated retinoblastomas showed hyperautofluorescence (hyperAF) at the site of calcification in all 5 cases (100%). The treated retinoblastomas showed intrinsic calcification in 54 cases (65%) and bright hyperAF at the site of calcification was detected in all cases. Of the 60 tumors with noncalcified remnant, the noncalcified portion was mildly hyperAF in 20 (33%), isoautofluorescence in 31 (52%), and mildly hypoautofluorescence (hypoAF) in 9 (15%). Surrounding retinal pigment epithelium hyperplasia appeared moderately hypoAF in 58 of 58 eyes (100%). Retinal pigment epithelium atrophy appeared mildly hyperAF in 29 (37%), isoautofluorescence in 33 (42%), and mildly hypoAF in 16 (21%). Conclusions: AF of retinoblastoma generally shows bright hyperAF of the calcified portion and variable AF of the noncalcified portion. The AF of calcification in retinoblastoma was confirmed by fluorescent microscopy of unstained sections of retinoblastoma after enucleation. [ABSTRACT FROM AUTHOR]

Abstract: Infectious keratitis is an important cause of visual loss worldwide. Clinical diagnosis in the past was often supported only by microbiology and pathology to a lesser extent. Recent advances in the histological and molecular diagnosis of corneal infections have resulted in rapid and accurate diagnosis of the infectious agent. This review will provide an overview of the various corneal infections, with emphasis on histopathologic and molecular diagnosis. This is more so in cases where microbiology, the gold standard for corneal infections, comes out as negative. Thus a cumulative input from clinical, microbiology, histopathology and molecular methods of diagnosis not only helps in treating the patients but also contributes to better understanding of the disease process and paves the way to evaluate the emerging modalities of treatment like disease modifying medications, biomaterials and surgical techniques. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: To find correlation between the type of mutations observed and the severity of the disease using multiple techniques like polymerase chain reactions (PCR), quantitative multiplex PCR, sequencing and RNA analysis. Methods: Prospective, observational study. Patients who had been screened for mutations in the RB1 gene were included in the study. Patient details including demographic data; age and sex, laterality, international classification of intraocular retinoblastoma (ICIOR) staging, modality of management, histopathology high risk factors if the eyes were enucleated and metastasis rate were assessed. Results: Seventy four patients were studied. Fifty three patients had bilateral and 21 unilateral disease. Complete genetic data was analyzed for 74 patients and complete clinical correlation was established for all the 49 patients with mutations. Of the total mutations identified, 11/49 (22.4%) of patients had large deletions, 12/49 (24.5%) had small deletions or insertions, 14/49 (28.6%) had nonsense mutations, 7/49 (14.3%) had splice mutations and 5/49 (10.2%) of patients had missense mutations. Four cases were familial. Group E ICIOR stage at presentation was noted in 40% of patients with large deletions, 33% with small deletions whereas 38.5% with splice mutations and 44.4% of patients with missense mutations presented with Group B ICIOR. Twenty five percentages of eyes with large deletions had high risk features on histopathology and one patient among these developed metastasis. Conclusion: Current laboratory testing of RB1 mutations may be feasible in determining the severity of the disease and patient counseling. The study provides a starting point for looking at correlations. [Copyright &y& Elsevier]

Background: Bone marrow mesenchymal cells have been identified as a source of pluripotent stem cells with varying degrees of plasticity in humans. However, there are a few reports on rat-derived cells, which could be good models for the research purpose. We describe here a simple method of establishing the rat bone marrow stromal cells by the principle of adhesion and document their phenotype along with their differentiation potential to other lineages. Materials and Methods: Rat bone marrow stromal cells were isolated by three methods: direct plastic adherence, ficoll hypaque separation and a combination of both. The stromal cells obtained by these methods were characterized by fluorescent activating cell sorting (FACS) for established hematopoietic and non-hematopoietic markers. The cells obtained by combination method (combination of ficoll density gradient centrifugation and plastic adherence) were cultured and serially passaged. Transcriptional confirmation was done by reverse transcription polymerase chain reaction (RT-PCR) for vimentin and collagen type 1 alpha 1. Attempts were made to differentiate the marrow stromal cells into adipocytes, osteocytes and neuronal like cells. Results: Bone marrow samples from 10 rats yielded 4-5 million bone marrow mononuclear cells /ml per femur. Of the three methods tested, a combination method yielded good growth of spindle cells. The cells obtained by combined method showed high percentage of positivity for vimentin, fibronectin and CD90 and negative for hematopoietic markers. Further, RT-PCR confirmed vimentin and collagen type - 1 alpha 1 expression. Oil red O staining and Alizarin red staining confirmed adipocytic and osteogenic differentiation. On immunocytochemical analysis, the cells expressed nestin, β-tubulin III, neurofilament and synaptophysin. Conclusion: Adequate quantities of rat marrow stromal cell cultures can be established by a simple method based on adhesion properties. Their phenotypic characteristics and plasticity support the evidence that they are mesenchymal stem cells with a distinct tendency for neural lineage. [ABSTRACT FROM AUTHOR]

BMMNCs (bone marrow mononuclear cells) were isolated by density gradient centrifugation from unstimulated diagnostic marrow tap to propagate and characterize hBMSCs (human bone marrow stromal cells) and to explore their plasticity towards neuronal and other lineages. hBMSCs were characterized by flow cytometry for established markers, serially passaged and differentiated into adipo, osteo, chondro and neuronal lineages. Neural differentiation was analysed by RT-PCR (reverse transcriptase-PCR), ICC (immunocytochemistry) and Western blotting. The hBMSCs (n539) were spindle-shaped and immunoreactive for mesenchymal markers such as CD71, CD106, CD105, CD90 and Vimentin and negative for haematopoietic markers such as CD11c, CD34 and CD45. These cells showed differentiation into adipocytes, osteocytes and chondrocytes. Upon neuronal differentiation, hBMSCs expressed neuronal markers, i.e. β-III tubulin, GAP43 (growth-associated proteins), neurofilament by ICC, RT-PCR and Western blotting. Our study demonstrates that minimal volumes of unstimulated diagnostic marrow tap forms a minimally invasive and reliable source for isolation of BMMNCs to establish cultures of mesenchymal stem cells and expand them. The plasticity observed in these cells towards mesenchymal (adipogenic, osteogenic and chondrocytic) and non-mesenchymal lineage (neural) substantiates the nature of mesenchymal stem cells and warrants further studies to evaluate their functional role [ABSTRACT FROM AUTHOR]

Retinoblastoma (Rb) is the most common primary intraocular malignancy in children. It is brought about by the mutational inactivation of both alleles of RB1 gene in the developing retina. To identify the RB1 mutations, we analysed 74 retinoblastoma patients by screening the exons and the promoter region of RB1. The strategy used was to detect large deletions/duplications by fluorescent quantitative multiplex PCR; small deletions/insertions by fluorescent genotyping of RB1 alleles, and point mutations by PCR-RFLP and sequencing. Genomic DNA from the peripheral blood leucocytes of 74 Rb patients (53 with bilateral Rb, 21 with unilateral Rb; 4 familial cases) was screened for mutations. Recurrent mutations were identified in five patients with bilateral Rb, large deletions in 11 patients (nine with bilateral Rb and two with unilateral Rb), small deletions/ insertions were found in 12 patients all with bilateral Rb, and point mutations in 26 patients (14 nonsense, six splice site, five substitution and one silent change). Three mutations were associated with variable expressivity of the disease in different family members. Using this method, the detection rates achieved in patients with bilateral Rb were 44/53 (83%) and with unilateral Rb, 5/21 (23.8%). This approach may be feasible for clinical genetic testing and counselling of patients. [ABSTRACT FROM AUTHOR]

Objective: To examine histopathologic and immunohistochemical features of human corneal buttons from patients who developed keratoglobus. Methods: Nine corneal buttons were obtained during penetrating keratoplasty from patients with keratoglobus. Histologic features were examined using hematoxylin-eosin- stained sections. Immunohistochemical staining for α1- proteinase inhibitor, Sp1, and matrix metalloproteinases 1, 2, and 3 was performed, with 2 normal and 2 corneal sections with keratoconus as controls. Results: Hematoxylin-eosin staining revealed diffuse stromal thinning and focal disruptions in Bowman's layer in all keratoglobus specimens. Similar abnormal immunostaining results for α1-proteinase inhibitor and Sp1 were detected in keratoglobus and keratoconus at their respective active disease sites. Immunostaining for matrix metalloproteinases 1, 2, and 3 was significantly more intense in corneas with keratoglobus than in normal controls. Matrix metalloproteinase staining intensity was especially prominent in areas where the underlying Bowman's layer was disrupted. Conclusions: Histological features in our keratoglobus specimens are consistent with previous reports. The similarities in immunohistochemical labeling between keratoglobus and keratoconus suggest that these entities may share common mechanisms that are involved in stromal thinning. [ABSTRACT FROM AUTHOR]

A 21-year-old febrile lady presented to the emergency service with severe lid oedema, conjunctivitis, dry mouth and abdominal skin rash. Over 5 days, she developed silvery scales and pustules on the lids, and generalized pustules on an erythematous base. Multiple focal sterile corneal infiltrates were seen. Haematological investigations and a skin biopsy were done as the consulting dermatologist suspected acute generalized pustular psoriasis. In addition, secondary Sjögren's syndrome was diagnosed since she had keratoconjunctivitis sicca, xerostomia, raised erythrocyte sedimentation rate and positive antinuclear antibodies. The presence of microabscesses in the epidermis on skin biopsy confirmed the diagnosis of pustular psoriasis. With oral methotrexate 7.5 mg weekly and topical corticosteroids, the acute condition gradually resolved; however, the keratoconjunctivitis sicca is persisting. Secondary Sjögren's syndrome associated with acute generalized pustular psoriasis and ocular psoriasis is extremely rare. Awareness of the ocular and dermatological features of these two conditions would result in earlier diagnosis and institution of appropriate treatment. [ABSTRACT FROM AUTHOR]

A 6-year-old girl had total hyphema and elevated left intraocular pressure following trivial trauma. B-scan with vector A-scan revealed vitreous opacities consistent with hemorrhage. The drained hyphema did not recur. A left vascular conjunctival mass and massive cervical lymphadenopathy occurred 7 months later. Biopsy revealed extraocular retinoblastoma and lymph node metastasis. Computed tomography showed an intraocular mass with intracranial extension. She died of metastatic disease despite intensive chemotherapy. Retinoblastoma should be suspected in a child with hyphema following trivial trauma. [ABSTRACT FROM AUTHOR]

Objective: To map and identify the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2, OMIM 217700), a disorder characterised by diffuse bilateral corneal clouding that may lead to visual impairment and requiring corneal transplantation. Methods: Members of 16 families with autosomal recessive CHED were genotyped for 13 microsatellite markers at the CHED2 locus on chromosome 20p13-12. Two-point linkage analysis was carried out using the FASTUNK version of the MLINK program. Mutation screening was carried out by amplification of exons and flanking regions by polymerase chain reaction, followed by direct automated sequencing. Results: linkage and haplotype analysis placed the disease locus within a 2.2cM (1.3 Mb) interval flanked by D20S198 and D20S889, including SLC4A11. The maximum limit of detection score of 11.1 was obtained with D20S117 at θ=0. Sequencing of SLC4A11 showed homozygotic mutations in affected members from 12 of 16 families. Conclusion: These results confirm that mutations in the SLC4A1 1 gene cause autosomal recessive CHED. [ABSTRACT FROM AUTHOR]

Abstract: Purpose: Cellular cardiomyoplasty is a potential therapeutic approach to preventing left ventricular remodeling after myocardial infarction and has shown encouraging results such as induction of neoangiogenesis and functional improvement of diseased hearts. We report the results of a pilot study on progenitor cells in five patients with acute myocardial infarction (AMI). Materials and Methods: Patients with single-vessel disease who had their first episode of myocardial infarction and underwent angioplasty after 48 h (an average of 17 days following myocardial infarction) were included in the study. Mononuclear cells (MNCs) (1×107) were isolated by Ficoll Hypaque method from 60 ml of bone marrow (BM) obtained from the iliac crest of 5 patients (aspiration was performed under local anesthesia). The mean CD34 count was 1–4%. After confirming the patency of the affected vessel postangioplasty, cellular concentrate was injected into the affected artery in 3-ml boluses (three to four injections), with intermittent occlusion. Results: The mean age of all five male patients was 48.6+13.7 years. At 1 year, five patients were asymptomatic, and one had Class II dyspnea on exertion. The results of an echocardiogram performed at 6 months showed an improvement in ejection fraction (EF) from 35.3% to 43.13% and in fractional shortening from 24.75% to 28.33%. End-systolic volume decreased from 115.5 to 92.3 ml, end-diastolic volume decreased from 177.5 to 170 ml, and end-systolic dimensions also decreased from 4.26 to 4 mm, demonstrating positive left ventricular remodeling. Repeat echocardiogram at 1 year showed persistent improvement in EF. No adverse events were noted either before or after the procedure. Conclusion: The injection of autologous BM MNCs is a safe and efficacious therapy following early revascularization in AMI patients. [Copyright &y& Elsevier]

Purpose: To report the clinical outcome of autologous cultivated limbal epithelial transplantation.Methods: Eighty-six patients' records and their clinical photographs were reviewed for demographics, primary etiology, type of limbal transplantation, ocular surface stability, visual acuity, final outcome and possible factors affecting outcome and complications.Results: Eighty-eight eyes of 86 patients with limbal stem cell deficiency (LSCD) underwent autologous cultivated limbal epithelium transplantation between March 2001 and May 2003, with a mean follow-up of 18.3 months. The etiology of LSCD was alkali burns in 64% patients. Sixty-one eyes had total LSCD. Thirty-two of the 88 eyes had undergone amniotic membrane transplantation and 10 eyes had previously undergone limbal transplantation with unfavorable outcome. Nineteen eyes underwent penetrating keratoplasty, of which 11 grafts survived at the final follow-up. Finally, 57 eyes (73.1%, 95% CI: 63.3-82.9) had a successful outcome with a stable ocular surface without conjunctivalization, 21 eyes (26.9%, 95%CI: 17.1-36.7) were considered failures and 10 patients were lost to follow-up.Conclusion: LSCD can be successfully treated by autologous cultivated limbal epithelium transplantation in majority of the cases. [ABSTRACT FROM AUTHOR]

Objectives To determine genotypes in 2 Indian families with severe granular corneal dystrophy, to document clinical and histopathologic features, and to attempt a genotype-phenotype correlation. Methods Mutation analysis of exon 12 of the TGFBI gene was carried out in 9 individuals from 2 families. Results A C→T mutation at residue 1710 of TGFBI complementary DNA, corresponding to an Arg555Trp mutation in keratoepithelin, was found in affected members of both families. In 5 patients, this mutation was homozygous, and it was heterozygous in the other 4. Clinical examination revealed a severe form of granular corneal dystrophy with early onset and superficial lesions in the homozygous individuals and a milder phenotype in the heterozygous individuals. Histopathologic evaluation of corneal specimens from 2 homozygous patients confirmed the presence of superficial granular deposits. Conclusions To our knowledge, this is the first molecular and clinical characterization of severe granular corneal dystrophy in India. Genotype-phenotype correlation and comparison with earlier reports on this entity highlight the uniform expressivity of the Arg555Trp allele in homozygous individuals. Clinical Relevance Homozygous granular corneal dystrophy has a severe phenotype and can be recognized based on clinical and histopathologic features, especially in association with consanguinity or inbreeding. [ABSTRACT FROM AUTHOR]

Purpose: Retinal pigment epithelial (RPE) cells grow well on surfaces that provide an extracellular matrix. Our aim was to establish primary adult human RPE cell cultures that retain their epithelial morphology in vitro using human amniotic membrane (hAM) as substrate.Materials and Methods: Human cadaver eyeballs (16) were obtained from the eye bank after corneal trephination. RPE cells were harvested by a) mechanical dissection of the inner choroid surface (10, group 1) or by b) enzymatic digestion using 0.25% Trypsin/0.02% EDTA (6, group 2). The cells were explanted onto de-epithelialized hAM, nourished using DMEM/HAMS F-12 media and monitored for growth under the phase contrast microscope. Cell cultures were characterised by whole mount studies and paraffin sections. Growth data in the two groups were compared using the students' 't' test.Results: Eleven samples (68.75%) showed positive cultures with small, hexagonal cells arising from around the explant which formed a confluent and progressively pigmented monolayer. Whole mounts showed closely placed polygonal cells with heavily pigmented cytoplasm and indistinct nuclei. The histologic sections showed monolayers of cuboidal epithelium with variable pigmentation within the cytoplasm. Growth was seen by day 6-23 (average 11.5 days) in the mechanical group, significantly earlier (P < 0.025) than in the enzymatic group (day 29-35, average 31.6 days).Conclusions: Primary adult human RPE cell cultures retain epithelial morphology in vitro when cultured on human amniotic membranes. Mechanical dissection of the inner choroid surface appears to be an effective method of isolating RPE cells and yields earlier growth in cultures as compared to isolation by enzymatic digestion. [ABSTRACT FROM AUTHOR]

Objective To describe the early results of penetrating keratoplasty (PKP) in patients who had previously undergone cultivated limbal epithelium transplantation. Methods Medical records of patients with limbal stem cell deficiency due to chemical burns who underwent PKP after cultivated limbal epithelium transplantation were reviewed for demographics, primary etiology, type of limbal transplantation, ocular surface stability, visual acuity, graft clarity, and complications. Histopathologic features of the recipient corneal buttons were studied with special attention to epithelial status. Results Of the 125 patients with limbal stem cell deficiency treated with cultivated limbal epithelium transplantation, 15 underwent PKP at a mean interval of 7 months (range, 2-12 months) following cultivated limbal epithelium transplantation (autologous, n = 11; allogenic, n = 4). All 4 patients treated with allogenic cultivated limbal epithelium transplantation were undergoing immunosuppressive therapy. Fourteen (93%) of the 15 eyes had a successful corneal graft with a stable corneal epithelium. Preoperative best-corrected visual acuity was less than 20/200 in 14 of the 15 eyes. At a mean ± SD follow-up of 8.3 ± 5.0 months after PKP, the best-corrected visual acuity was more than 20/60 in 8 eyes, 20/200 to 20/60 in 5 eyes, and less than 20/200 in 2 eyes. Three of the 15 eyes experienced corneal allograft rejection, which was managed successfully. One eye with graft rejection also had glaucoma. None of the limbal epithelial allografts showed signs of rejection. Conclusions Early results of PKP following cultivated limbal epithelium transplantation are favorable when performed after stabilizing the ocular surface. Adequate immunosuppression is essential for allogenic cultivated limbal epithelium transplantation to avoid rejection. Corneal allografts can separately reject the limbal allografts. [ABSTRACT FROM AUTHOR]

Purpose: To describe the early results of penetrating keratoplasty (PKP) in patients who had earlier received limbal transplantation (LT).Methods: Prospective, non-comparative interventional case series comprising of four patients with limbal stem cell deficiency (LSCD) due to chemical injury (Cases 1, 2, 4) and xeroderma pigmentosum (Case 3). Cadaveric kerato-limbal allografts or living-related conjunctival-limbal allografts were done in four eyes followed by PKP for visual rehabilitation 3-4.5 months later. The following details were noted: demographics, primary aetiology, type of limbal transplant (cadaveric or living-related), immunosuppression, vision and ocular surface stability before and after LT and PKP, surgical complications and outcome of PKP.Results: Three eyes received living-related conjunctival-limbal allotransplantation and one received cadaveric kerato-limbal allograft. Duration of follow up after PKP ranged from 4 to 11 months. Visual acuity improved in the early postoperative period in all patients but reduced in 2 due to endothelial rejection and after trans-scleral cyclophotocoagulation for medically uncontrolled glaucoma. The ocular surface remained stable in all patients. All patients were started on immunosuppression on the first postoperative day. This was continued till the last follow-up visit. Post-PKP complications were punctate epithelial keratopathy, corneal allograft rejection and secondary glaucoma (one patient each).Conclusion: Satisfactory visual rehabilitation is possible after PKP following LT without compromising ocular surface stability. However, a prolonged and close follow-up is warranted to avert complications. [ABSTRACT FROM AUTHOR]

Reports on two medical cases of chronic granulomatous conjunctivitis of tuberculous origin. Revelation that depot corticosteroid injections in both patients led to tarsal necrosis in eyes of the patients; Medical history of the 16-year-old girl with mass in her eyes; Details of tests conducted on patients which confirmed the diagnosis of tuberculous conjunctivitis.

Twenty-one probands, twelve with bilateral and nine with unilateral retinoblastoma,were screened for mutations in the RB1 gene using genomic DNA from peripheralblood leukocytes as well as tumors. Amplification of individual exons andflanking regions of the RB1 gene were carried out, followed by direct sequencingof the amplified products. Sequences of affected individuals were comparedwith those of controls. Mutations were identified in seven patients, fivewith bilateral and two with unilateral retinoblastoma. Six out of seven mutationsinvolved the formation of premature termination codons by means of singlebase substitutions (2), frameshifts due to splice-site mutations (2), or deletionand duplication (2). One missense mutation was identified. Of the remainingfourteen patients, seven with bilateral disease had no mutations in peripheralblood (7 cases) or tumors (3/7 cases). Analysis of the peripheral blood ofseven patients with unilateral disease also showed no mutations. Mutationswere detected in about one-third of the cases, suggesting that hemizygousdeletions at the RB1 locus or mutations outside the coding regions of RB1may be responsible for the disease in the remaining patients. [ABSTRACT FROM AUTHOR]

The authors report a rare case of Rosai Dorfman disease with multifocal involvement of periorbital tissues, beginning in a young girl at the age of 3 and spanning 15 years. Surgical treatment was successful. [ABSTRACT FROM AUTHOR]

Human papillomavirus (HPV) perinatal transmission and risk of HPV persistence among children: Design, methods and preliminary results of the HERITAGE study. From the well-known "hit and run" viruses, we now are familiar with the strong association of human papilloma virus (HPV) and cervical cancer and nasopharyngeal cancer with the research leading to development of a vaccine. Presence of human papilloma virus in tumour tissue from children with retinoblastoma: An alternative mechanism for tumour development. [Extracted from the article]

This report describes the histopathological findings in a patient with Acanthamoeba sclerokeratitis (ASK). A 58-yearold patient with ASK underwent enucleation and sections of the cornea and sclera were subjected to histopathology and immunohistochemistry with monoclonal mouse antihuman antibodies against T cell CD3 and B cell CD20 antigens. Hematoxylin and Eosin stained sections of the cornea revealed epithelial ulceration, Bowman's membrane destruction, stromal vascularization, infiltration with lymphocytes, plasma cells, and granulomatous inflammation with multinucleated giant cells (MNGC). The areas of scleritis showed complete disruption of sclera collagen, necrosis and infiltration with neutrophils, macrophages, lymphocytes, and granulomatous inflammation with MNGC. No cyst or trophozoites of Acanthamoeba were seen in the cornea or sclera. Immunophenotyping revealed that the population of lymphocytes was predominantly of T cells. Granulomatous inflammation in ASK is probably responsible for the continuance and progression of the scleritis and management protocols should include immunosuppressive agents alongside amoebicidal drugs. [ABSTRACT FROM AUTHOR]

We report a rare case of a deep stromal keratitis with a chronic indolent course, diagnosed as microsporidial keratitis from corneal scrapings. The patient's condition worsened despite medical therapy and penetrating keratoplasty was performed. The histopathology of the corneal tissue revealed multiple microsporidial spores in the posterior stroma and the endothelial exudates, whereas there was no clinical or histopathological breach in Descemet's membrane. This is the second report in the literature to report that micropsoridial spores can cross the intact Descemet's membrane. [ABSTRACT FROM AUTHOR]

A 32-year-old non-alcoholic, immunocompetent male with history of prior trauma presented with pain and protrusion of the left eye of 8 months' duration. A firm nontender mass could be palpated in the superomedial orbit and the periocular skin had multiple discharging nodules. Computed tomography of the orbit showed an ill-defined lesion in the left orbit with preseptal soft tissue thickening, lacrimal gland infiltration and a moth eaten appearance of the left orbital roof. Tissue sampling from discharging cutaneous sinuses grew confluent colonies of Staphylococcus aureus and Nocardia cyriacigeorgica (16S rRNA gene sequencing; GQ376180). Histopathological examination showed mixed inflammatory infiltrates and eosinophilic granules showing Splendore-Hoeppli phenomenon. Despite an early response to treatment with intravenous amikacin, reactivation of left orbital inflammation led to eventual loss of vision. A prolonged treatment course with intravenous amikacin and oral trimethoprim-sulfamethoxazole over a period of 1 year showed clinical resolution with periocular scarring, hypoglobus, and sensory exotropia. [ABSTRACT FROM AUTHOR]

We report a rare case of keratoconus with granular dystrophy with a follow-up of two decades, documenting the sequential presentation of two diseases confirmed by histology and genetic studies. A 13-year-old boy was diagnosed in 1988 with keratoconus in both eyes (BE) based on slit-lamp biomicroscopy fi ndings of corneal ectasia in BE accompanied by Fleischer's ring, Vogt's striae, a small, old, healed hydrops. The left eye (LE) had central corneal thinning and scar in the central area involving the mid and posterior stroma secondary to healed hydrops. Penetrating keratoplasty (PKP) was advised. The boy was lost to follow-up till 1991 and presented with white, dot-like opacities in the central cornea in the RE only, suggestive of granular corneal dystrophy. Similar fi ndings of white, dot-like opacities were noted in the LE in 1995 and the patient subsequently underwent PKP in BE. Histopathology of corneal butt ons confi rmed the presence of patchy, crystal-like orange deposits, which stained bright red with Masson's trichrome. Mutational analysis of the TGFBI gene in patient's DNA revealed a heterozygous mutation corresponding to a change in Arg555Trp in the keratoepithelin protein. Granular dystrophy recurred aft er 8 years in the RE. [ABSTRACT FROM AUTHOR]

Orbital solitary fibrous tumor (SFT) is a rare tumor originating from the mesenchyme. Initially described in the pleura and subsequently in other mesenchymal structures, orbit continues to be one of the uncommon extrapleural sites. The diagnosis of orbital SFT cannot be made with certainty on clinical or radiological evaluation and requires histologic studies with immunohistochemical confirmation for which CD 34 is the most specific diagnostic test. We describe clinical presentations, radiological and operative findings, and pathological features of a patient with orbital SFT along with a review of literature. [ABSTRACT FROM AUTHOR]

Benign calcifying epithelioma of Malherbe or pilomatrixoma or pilomatricoma is an uncommon lesion of the periocular tissues, arising from the matrix cells at the base of the hair. In the periocular area, it usually arises from the lids and eyebrows. Pilomatrixoma has certain characteristic clinical and histopathologic features, but since it is not commonly suspected preoperatively, certain distinctive clinical features of tumor should suggest clinical diagnosis followed by histopathologic confirmation. [ABSTRACT FROM AUTHOR]

Xanthogranuloma is an uncommon tumor in the orbit and is usually associated with systemic diseases or blood abnormalities. We report an extremely rare presentation of isolated orbital xanthogranuloma unassociated with any systemic disease, hematological or biochemical abnormalities. A 47-year-old physician presented with proptosis of the left eye of three years duration with yellowish skin plaques. The CT scan revealed a well-defined heterogeneous mass in the medial orbit. There was no evidence of systemic, serum or biochemical abnormalities. The mass was removed by a medial orbitotomy. Histopathology confirmed the diagnosis based on the presence of inflammatory infiltrates, histiocytes and Touton giant cells. [ABSTRACT FROM AUTHOR]

A 6-year-old Bangladeshi girl presented with total limbal stem cell deficiency in the left eye, secondary to a 6-month-old chemical injury. The patient had also previously undergone two limbal transplantation surgeries. At the authors’ centre the child underwent autologous cultured limbal epithelium transplantation, on human amniotic membrane, without the use of air-lift technique. Symptomatic relief, re-epithelialization of the ocular surface, regression of corneal pannus and slight improvement in vision were all noted. The corneal button obtained at the time of keratoplasty (performed 4 months later) revealed stratified epithelium with basement membrane. Thirty-seven months post keratoplasty, the best-corrected visual acuity was 6/15 with clear graft and stable ocular surface. Herein, a case of limbal stem cell deficiency successfully managed by monolayer of cultured limbal epithelium is presented. [ABSTRACT FROM AUTHOR]

A 12-year-old girl with total limbal stem cell deficiency in the right eye following chemical burns underwent autologous cultivated limbal epithelium transplantation from the healthy left eye. Postoperatively at 6 weeks a mass at the limbus was noted, which increased in size and involved infero-nasal limbus extending over 5 mm on bulbar conjunctiva. It was a gelatinous, placoid freely movable mass with irregular surface, multiple intralesional cysts without feeder vessels or intrinsic vascularization and stained brilliantly with rose bengal. Histopathology following excision biopsy showed hyperplastic epithelium with stratified columnar cells and goblet cells. At the last follow-up, 6 months following cultivated limbal epithelium transplantation the ocular surface was stable without any recurrence of the lesion. We herein report a rare complication of epithelial hyperplasia presenting as leukoplakia following cultivated limbal epithelium transplantation mimicking ocular surface squamous neoplasia. [ABSTRACT FROM AUTHOR]