Ruchi Mittal

Successful Descemet stripping endothelial keratoplasty in congenital hereditary endothelial dystrophy.

Purpose: To report successful Descemet stripping endothelial keratoplasty (DSEK) in a patient with congenital hereditary endothelial dystrophy (CHED). Methods: A 19-year-old boy presented with complaints of decreased vision, hazy corneas, and nystagmus since birth. Six months prior, the right eye had undergone penetrating keratoplasty. In the left eye, he was planned for DSEK. Results: Successful Descemet membrane (DM) scoring and stripping was achieved with a reverse Sinskey hook after trypan blue staining. Manually dissected posterior stromal donor tissue was transplanted using Busin glide. Corneal edema resolved completely with a final best-corrected visual acuity of 20/100 at 6 months. Serial anterior segment optical coherence tomography scans showed maximum decrease in stromal thickness in the first month. Despite resolution of corneal edema, mild stromal haze persisted, which decreased with time. Histopathology of removed DM showed thickened DM and absence of endothelial cells which was suggestive of CHED. Conclusions: To the best of our knowledge, this is the first reported case of successful DSEK in a patient with CHED.

Ocular surface squamous neoplasia – Review of etio-pathogenesis and an update on clinico-pathological diagnosis

Ocular surface squamous neoplasia (OSSN) has a varied clinical presentation, the diagnosis of which rests on the histopathological examination of the excised lesion. The term OSSN includes mild dysplasia on one end of the spectrum and invasive squamous cell carcinoma on the other end. This lesion has a multi factorial aetiology with interplay of several factors like exposure to ultraviolet radiation, various chemical carcinogens and viral infections, however role of individual agents is not well understood. With the upsurge of infection with human immunodeficiency virus, a changing trend is seen in the clinical presentation and prognosis of patients of OSSN even in developed countries. Anterior segment optical coherence tomography (OCT) and confocal microscopy, hold promise in in-vivo differentiation of intraepithelial neoplasia from invasive squamous cell carcinoma. Variants of squamous cell carcinoma like Mucoepidermoid carcinoma, spindle cell carcinoma and OSSN associated with HIV infection should be suspected in a case of aggressive clinical presentation of OSSN or with massive and recurrent tumours. Surgery, chemotherapy and immunotherapy are the various treatment modalities which in combination show promising results in aggressive, recurrent and larger tumours.

Successful management of severe unilateral chemical burns in children using simple limbal epithelial transplantation (SLET)

Aim To study the outcomes of simple limbal epithelial transplantation (SLET) for unilateral total limbal stem cell deficiency (LSCD) secondary to severe ocular surface burns in children. Methods Retrospective interventional case series was performed at a private referral tertiary care centre. Children less than 15 years of age who underwent autologous SLET for total LSCD and had a minimum follow-up of 6 months were included in the study. Demographic and clinical data were recorded in a predesigned form. All patients underwent SLET with a standardised technique. The outcome was defined as complete success (completely epithelialised, avascular corneal surface), partial success (focal recurrence of symblepharon not involving the visual axis) and failure (unstable ocular surface with persistent epithelial defects/symblepharon recurrence involving the visual axis). Results The mean age was 5.75 years (range 2–12). The male to female ratio was 3:1. All eyes (four) presented in the acute phase, had grade 6 chemical injury (Dua classification) and underwent amniotic membrane transplantation at presentation. The mean interval between initial injury and SLET was 6 months (range 4.5–8). The outcome was complete success and partial success in one-fourth and three-fourths of cases, respectively. The overall follow-up was 12–60 months. Pre-SLET visual acuities were hand motions (one eye) and perception of light (three eyes). Post-SLET visual acuities were counting fingers close to face (one eye), 6/36 (two eyes) and 6/18 (one eye) at final follow-up. Cases with partial success underwent repeat SLET with conjunctival autograft, after which the outcome was complete success in all cases at varied follow-up intervals (13–36 months). Conclusions SLET appears to be a promising technique for treatment of LSCD secondary to ocular surface burns in children.

Perforin expression in eyelid sebaceous carcinomas: a useful and specific immunomarker for the differential diagnosis of eyelid carcinomas.

Eyelid sebaceous carcinoma (SC) remains a common diagnostic pitfall for both the clinician and histopathologist. The aim of this study was to describe perforin as a new marker in the immunohistochemistry panel for SC.

Voriconazole-refractory fungal infection of phacoemulsification tunnel.

A 44-year-old man presented 28 days after cataract surgery (phacoemulsification) in right eye with multiple pinpoint infiltrates in posterior stroma at cataract surgery wound site. Visual acuity was 20/60. Corneal scraping from the floor of the corneal tunnel revealed fungus which was later identified to be Aspergillus flavus. The patient was started on oral voriconazole 200 mg twice daily and topical voriconazole 1% every hour. Two intracameral injections of voriconazole (50 micrograms/ 0.1 ml) were given 72 h apart, five days after starting initial therapy. Infiltrates increased in size and density in spite of 20 days of voriconazole therapy. Full-thickness patch graft was done to arrest progressive necrosis. Four months after surgery, patient had 20/60 best-corrected visual acuity. There was no recurrence in one-year follow-up. Present case illustrates the therapeutic challenge in fungal tunnel infections and possibility of voriconazole-resistant Aspergillus species.

Bilateral Diffuse Uveal Melanocytic Proliferation: Molecular Genetic Analysis of a Case and Review of the Literature

Purpose of the Study: To describe the clinicopathological features, mutational and chromosomal copy number analysis, and 8-year follow-up of a case of bilateral diffuse uveal melanocytic proliferation (BDUMP) associated with clear-cell carcinoma of the endometrium. Methods: Histological evaluation, multiplex ligation-dependent probe amplification (MLPA) analysis and GNAQ/11 mutational analysis were performed in a 67-year-old female patient with the diagnosis of BDUMP. Results: Histological evaluation revealed proliferation of bland spindle cells, diffusely replacing the uveal tract, which showed a proliferation index of less than 1%. There was absence of mutations involving the codon 209 and 183 of GNAQ, and of GNA11. MLPA analysis showed disomy 3 with polysomy 8q for both eyes. The patient died 8 years later of an unrelated condition. Conclusions: Although BDUMP is considered to be a benign proliferative disease, copy number alterations of unknown significance may occur in these lesions.

Primary Simple Limbal Epithelial Transplantation Along With Excisional Biopsy in the Management of Extensive Ocular Surface Squamous Neoplasia.

Purpose: To describe the utility of simple limbal epithelial transplantation (SLET) along with tumor excision in the management of extensive ocular surface squamous neoplasia (OSSN) to avoid limbal stem cell deficiency (LSCD). Methods: This case report describes the management of a 75-year-old man clinically diagnosed with OSSN involving more than 3 quadrants of limbus. The excisional biopsy of tumor along with 4-mm healthy margin led to a complete loss of the limbus, which was restored by limbal epithelial cell transplantation using the SLET technique in the same setting. Results: The tumor was found adherent to the episclera in the superotemporal quadrant and required episcleral and superficial lamellar scleral dissection. The entire tumor could be excised, and complete reepithelialization of the cornea was seen within 2 weeks. Histopathology showed tumor cells infiltrating the stroma and base of the excision biopsy, suggesting invasive squamous cell carcinoma. The excised margins were tumor free. To prevent recurrence, the patient underwent radiotherapy (plaque brachytherapy). After a follow-up period of 2 years, a successful outcome in the form of a stable ocular surface, no tumor recurrence, and no signs of LSCD was achieved in our patient. Conclusions: Restoration of limbal stem cells using SLET technique in an extensive OSSN in the primary setting may be pertinent to a good outcome.

Combined endothelial keratoplasty and clear lens extraction for corneal decompensation in irido-corneal endothelial syndrome

A 38-year-old woman presented with corneal decompensation in left eye secondary to irido-corneal endothelial (ICE) syndrome. She underwent simultaneous Descemets stripping endothelial keratoplasty (DSEK) and clear lens extraction with posterior chamber intraocular lens implantation. The surgery was accomplished comfortably without rupture of peripheral anterior synechiae (PAS). 5 weeks postoperatively, the graft was attached, the cornea was clear and best-corrected visual acuity improved from 20/400 to 20/30. DSEK combined with clear lens extraction appears to be an effective measure to treat corneal decompensation in patients with ICE syndrome. Associated lens extraction in such cases increases the working space in anterior chamber for DSEK, which minimizes the intra-operative graft manipulation. This also avoids a future difficult cataract surgery in the presence of PAS and an endothelial graft, which may increase the chances of graft survival.

Tufted angioma (Angioblastoma) of eyelid in adults-report of two cases

AbstractTufted angioma, first recognized in Japanese literature as “Angioblastoma of Nagakawa”, is a rare benign vascular tumour with a variable clinical presentation. It commonly manifests as a macule, papule or nodule in infancy or childhood in the region of the upper trunk and neck. Here in we report two cases of this rare progressive angioma as lesions of the eyelid in adults. Tufted angioma has a classical “cannon ball” like appearance of vascular tufts on histopathology. Immunohistochemical staining with actin highlights the spindly stromal cells surrounding the capillaries. Complete physical examination and haematological work up is recommended in patients with tufted angioma to exclude rare association of port wine stain and Kasabach-Merritt syndrome with this rare entity. To the best of our knowledge, our cases illustrate the first case report of tufted angioma presenting as an eyelid lesion.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1230909536950947.

Challenges in pediatric endothelial keratoplasty

We performed endothelial keratoplasty (EK) in three eyes of two siblings (2.5 years, male and 3.5 years, female) with congenital hereditary endothelial dystrophy (CHED) and report the intraoperative and postoperative difficulties. Repeated iris prolapse, apprehension of crystalline lens touch due to positive vitreous pressure, and need for frequent air injections to attach the graft were intraoperative challenges in all three eyes. These were addressed by use of Sheets glide instead of Busins glide during graft insertion and suturing of main and side ports before air injection. One eye had graft dislocation on second postoperative day due to eye rubbing by the child. Graft was repositioned with air and a venting incision was created. Postoperative examination required repeated general anesthesia. Corneal edema resolved completely in all three eyes. Present case series highlights the possible intraoperative and postoperative challenges and their solutions in pediatric EK for CHED.