Search

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

PURPOSE: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteristics, histopathology, genetic association, and diagnostic imaging profiles using imaging modalities such as ultrasound biomicroscopy (UBM) and microscope-integrated intraoperative optical coherence tomography (i-OCT). MATERIALS AND METHODS: Seventy-four eyes with 22 eyes of CHED, 28 eyes of PA, and 24 eyes of PCG were clinically evaluated and underwent imaging using UBM and i-OCT. Corneal buttons of 16 operated patients underwent histopathological analysis, while genetic analysis was done in 23 patients using whole-exome sequencing. RESULTS: Corneal diameters (CD) and UBM parameters like anterior chamber depth (ACD), iris thickness (IT), and ciliary body (CB) thickness revealed a statistically significant difference between the three categories. In PA, 9 eyes had a third rare phenotype with only a posterior corneal defect with no iris adhesions. Genetic mutations were seen in all tested patients with CHED, in 83.3% of patients with PCG, and in 80% of patients with the third type of PA. i-OCT helped in the characterization of corneal opacity, identification of posterior corneal defects, iridocorneal adhesions, and contour of Descemet's membrane. CONCLUSION: Overlapping phenotypes of the above disorders cause a diagnostic dilemma and parameters like CDs, UBM ACD, IT, and CB thickness help differentiate between them. i-OCT can help in classifying the diseases in a high resolution, non-contact manner, and can better delineate corneal characteristics. The rare third type of PA phenotype may have a genetic association. [ABSTRACT FROM AUTHOR]

Mucopolysaccharidosis (MPS) is a group of genetic disorders with seven types and 13 subgroups which are characterized by an inherent deficiency of the enzymes responsible for the degradation of glycosaminoglycans (GAGs). Defective breakdown of GAG products leads to their widespread accumulation within the lysosomes of various organs involving the eye, central nervous system, skeletal, ocular, nervous, respiratory, cardiac, and the gastrointestinal systems. Clinical spectrum varies from mild systemic and ocular abnormalities with a normal life span to severe phenotype, fatal in the first few months of life. Visual disability due to corneal clouding, retinopathy, and optic nerve involvement causes additional impairment of physical and cognitive functions. Treatment modalities such as bone marrow transplantation and enzyme replacement therapies help in increasing the life span as well as the quality of life of the affected patients. For patients with significant corneal clouding, keratoplasty is the answer. The decision to proceed with keratoplasty is governed by various factors such as the motivation of the patient and his family, other systemic affections and anesthesia concerns. A detailed preoperative counseling should be done regarding the expected visual outcomes in the presence of other ocular comorbidities and the postoperative complication such as graft re-opacification, rejection and glaucoma. Future treatment options such as targeted gene therapy and substrate reduction therapy hold promise to reverse corneal clouding, thereby obviating the need for corneal transplantation. These treatment therapies are still in the experimental stages and human trials are needed to validate their outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Mutations in human telomerase reverse transcriptase (TERT) are associated with increased telomerase activity in cutaneous melanomas. Conjunctival squamous cell carcinoma, also referred to as ocular surface squamous cell carcinoma, is cancer on the surface of the eye. Recent studies have identified UV signat`ure mutations in TERT promoters in ocular melanoma and ocular surface squamous neoplasia. However, its immunohistochemical status has not been reported in ocular surface squamous cell carcinoma. This study aimed to explore the immunohistochemical and mutational status of TERT in ocular surface SCC.Methods: The immunohistochemical expression of TERT and mutational status of TERT promoter was evaluated in 19 ocular surface squamous cell carcinoma cases. Conjunctival melanoma tissue was used as a positive control.Results: The cytoplasmic overexpression of TERT was detected in 11/19 (57%), and TERT promoter mutations were identified in 6/19 (31%) of ocular surface squamous cell carcinoma. Out of these, 66% had a C228T mutation, and 33% had a C250T mutation. The TERT expression was found to be associated with a high (≥T3) AJCC category (P = 0.023), and TERT immunoexpression was significantly correlated with reduced disease-free survival (P = 0.024, log-rank analysis) in ocular surface squamous cell carcinoma patients.Conclusion: The present study demonstrates that TERT promoter mutations with UV signatures are frequent in ocular surface squamous cell carcinoma. The increased expression of TERT could be of biological significance in aggressive ocular surface squamous cell carcinoma. [ABSTRACT FROM AUTHOR]

Purpose: To evaluate biocompatibility and safety of plasma-treated poly-ε-caprolactone (pPCL) membrane compared to the human amniotic membrane in the healing of corneal epithelial defects in an experimental model.Methods: This is a prospective, randomized animal study including 12 rabbits. Circular epithelial injury measuring 6 mm in diameter was induced over the central cornea of one eye in twelve rabbits. The rabbits were randomized into two groups; in group A, the defect was covered with human amniotic membrane, while in group B, an artificial membrane made of bio-polymer plasma-treated poly-ε-caprolactone was grafted. Six rabbits were euthanized after 1 month and the other six after 3 months and the corneal epithelium was evaluated histopathologically and with immunohistochemistry.Results: Light microscopy of the corneal tissue performed after 1 month and 3 months demonstrated similar findings with no significant complications in either group. Immunohistochemistry with anti-CK-3 antibody showed characteristic corneal phenotype in the healed epithelium. In eyes grafted with pPCL membrane, epithelial healing as estimated by a decrease in size of the defect was significantly better than the group treated with the human amniotic membrane at all time periods monitored (P < 0.05), except day 1 (P = 0.83). The percentage reduction in the size of the epithelial defect was also significantly more in the pPCL membrane group as compared to the human amniotic membrane at all time periods (P < 0.05 at all observations) post-implantation except day 1 (P = 0.73).Conclusion: Plasma-treated poly-ε-caprolactone membrane is safe, biocompatible, and effective in the healing of corneal epithelial defects in rabbits. [ABSTRACT FROM AUTHOR]

Keywords: Infant tumors; low-grade myofibroblastic sarcoma; periorbital; recurrent tumor; sarcoma EN Infant tumors low-grade myofibroblastic sarcoma periorbital recurrent tumor sarcoma 2744 2746 3 07/15/22 20220701 NES 220701 Low-grade myofibroblastic sarcoma (LMFS) is a rare, intermediate grade tumor of myofibroblast cell origin, mostly found in adults. On light microscopy, fascicles of spindle-shaped tumor cells, with focal storiform pattern, were seen infiltrating soft tissues. Infant tumors, low-grade myofibroblastic sarcoma, periorbital, recurrent tumor, sarcoma. [Extracted from the article]

Purpose: The evaluation of Herpes Simplex virus-1 (HSV-1) transcript by different investigative methods (qPCR, PCR and IHC) in corneal buttons from suspected viral keratitis patients and the comparison of results with histopathological findings and clinical diagnosis.Methods: Sixty corneal buttons, 30 suspected viral keratitis, and 30 controls (keratoconus and bullous keratopathy) obtained after primary penetrating keratoplasty, were included in the study. All the corneal buttons were subjected to reverse transcriptase quantitative PCR (qPCR) for the detection of latency-associated transcript (LAT) gene, conventional PCR for polymerase (pol) gene, and immunohistochemistry (IHC) for HSV-1 antigen respectively. After obtaining baseline preoperative clinical data, all the patients were followed up for three years. The results obtained were correlated with clinicopathological features and follow-up data.Results: Of the 30 suspected viral keratitis patients there were 6 females and 24 males with mean age 46.5 ± 24.62 years (3-80 yrs). There was a marked male preponderance (80%). HSV-1 LAT transcript was detected in 23% (7/30) corneal buttons by qPCR, HSV-1 DNA in 6.7% (2/30) and HSV-1 antigen in 30% (9/30) cases by conventional PCR and IHC respectively. A statistically significant association was found between qPCR and DNA PCR (P = 0.04). All the 30 control corneas were negative for HSV-1 LAT gene, DNA and antigen.Conclusion: Detection of HSV-1 LAT transcript by qPCR may be superior to HSV-1 DNA PCR (conventional) and IHC, which has low sensitivity. However, the utility of HSV-1 LAT mRNA analysis as a diagnostic modality by qPCR needs to be validated on a larger patient cohort. [ABSTRACT FROM AUTHOR]

Background: Periodontitis is a common oral problem that everyone faces at least once in lifetime. According to the WHO, among all oral diseases, prevalence rate of periodontitis is very high. As definition given by the American Dental Association, periodontitis is a chronic inflammation of the tooth and its supporting structure which leads to loosening of the teeth in their socket and lastly loss of teeth. From ancient times, peoples are using traditional medicines to prevent or cure the disease. Glycyrrhiza glabra is one of the medicinal plants that show the effectiveness for sore throat and other respiratory infections in researches. Thus, the present study is an attempt to check the efficacy of G. glabra in the prevention and cure of periodontitis. Methodology: A randomized clinical control trial was conducted on 104 patients divided into two groups – experimental group and control group. G. glabra gum paint in 10% concentration was given to patients of experimental group for 4 weeks. All patients were instructed to strictly follow good oral hygiene habits. Parameters used for checking the effectiveness of G. glabra were gingival bleeding, loss of attachment, and depth of periodontal pockets. Results: Preintervention and postintervention scores were analyzed by means of mean, standard deviation, and t-test. There is a significant improvement in periodontal status of patients in the experimental group. Conclusions: Results of the present study revealed that G. glabra was effective in preventing periodontal diseases. The present study also motivates to conduct more Medicinal plant-based clinical trial in the prevention of periodontitis so that effective treatment can be provided with a minimal side effect. [ABSTRACT FROM AUTHOR]

Fine-needle aspiration biopsy (FNAB) of intraocular mass lesions is an important intervention in the presence of diagnostic difficulty. FNAB of intraocular mass lesions is also likely to become more commonly recommended for prognostication of tumors such as choroidal melanoma. The most commonly described approach for tumor localization and visualization during FNAB is transillumination and indirect ophthalmoscopic viewing. Herein, we report endoillumination (chandelier) and wide-angle viewing assisted, microscope-based approach for FNAB in two patients using two port minimally invasive vitreoretinal surgical approach. The submission is supported by a video demonstration. The entire procedure was completed under the microscope. Adequate sample was obtained. In the first patient, the inflammatory nature of the lesion was confirmed though magnetic resonance imaging had been reported as melanoma. In the second patient, a clinical diagnosis of amelanotic melanoma was confirmed. Endoillumination-assisted FNAB of intraocular mass lesions is easier to learn and more precise and hence carries lesser risks. [ABSTRACT FROM AUTHOR]

A previously diagnosed child of persistent hyperplastic primary vitreous (PHPV) with painless blind eye remained clinically silent for about 3 years follow-up. The child suddenly presented as a case of orbital cellulitis and panopthalmitis with meningitis. No definite mass lesion was detected on ultrasonography, magnetic resonance imaging (MRI) and positron emission tomography (PET) scan. Histopathology of the enucleated eye revealed intra-ocular medulloepithelioma as the culprit of sterile panophthalmitis and orbital inflammation. [ABSTRACT FROM AUTHOR]

Hemangiopericytomas (HPCs) are rare soft tissue tumors. The eyelid is a very uncommon site for these tumors, and an anaplastic variant of HPC in the eyelid has not been reported before. A 44-year-old male presented with complaints of slowly progressive, painless swelling on the inner aspect of the left upper eyelid for 9 months. He underwent local excision of the swelling and histopathology revealed a WHO Grade III anaplastic HPC. Whole body 18 F-fluorodeoxyglucose positron emission tomography-computed tomography done postoperatively did not show any evidence of local or distant disease. The patient was planned for adjuvant radiotherapy of 60 Gy in 30 fractions over 6 weeks in view of high grade of histopathology and doubtful margins. He is disease free at the time of the last follow-up. To the best of our knowledge, this is the first case of anaplastic HPC of eyelid being reported in English literature. [ABSTRACT FROM AUTHOR]

Sir, There is a grey zone of demarcation between squamous papilloma and squamous neoplasia of the ocular surface in regard to etiopathogenesis, treatment, and recurrence.[[1]] Multiple modalities have been described for the treatment of these squamous proliferations of the ocular surface, and among these, the role of excision with cryotherapy is well established.[[2]] A 17-year-old girl presented with recurrent squamous papilloma of the left upper eyelid, after excision 3 months before. We believe that the two relaxing vertical cuts at the medial and lateral edges of the tarsus safeguard the lid against cicatricial entropion or punctual malposition due to postcryotherapy scarring. [Extracted from the article]

A letter to the editor is presented in response to the article on the immunohistochemical analysis of P-glycoprotein (P-gp) in retinoblastoma.

Recurrence of Salzmann's nodular degeneration following corneal transplantation is uncommon. The earlier reports of recurrence of Salzmann's degeneration were based on clinical evidence. We report two histopathologically proven cases of recurrence of Salzmann's nodular degeneration following keratoplasty; one recurring after lamellar keratoplasty and the other following penetrating keratoplasty. Two male patients (40 yrs and 24 yrs) presented to us with a clinical picture of Salzmann's nodular degeneration. One patient had undergone lamellar keratoplasty in both eyes for Salzmann's degeneration, 22 years ago. A repeat lamellar keratoplasty was performed in the right eye (7.5 mm/8 mm). In the other patient, penetrating keratoplasty was performed in the left eye, 6 years ago for the same. Lamellar keratoplasty was performed in the left eye (8 mm/8 mm). The histopathologic evaluation of the host button in both the cases, showed features very much suggestive of a recurrence of Salzmann's nodular degeneration. [ABSTRACT FROM AUTHOR]