Orbital cavernous haemangiomas: immunohistochemical study of proliferative capacity, vascular differentiation and hormonal receptor status.

BACKGROUND/AIMS: Immunohistochemical characterisation of orbital cavernous haemangiomas (CHs) with respect to proliferative capacity, hormone receptor status and vascular differentiation. METHODS: Eleven cases of orbital CHs were reviewed. Immunohistochemical stains for Mib-1, proliferating cell nuclear antigen (PCNA), Bcl-2, estrogen and progesterone receptors (ER & PR), CD31, D2-40, and VEGF were investigated in 11 specimens. RESULTS: Immunohistochemical staining revealed positivity for PCNA in ten of the 11 cases (91%). Bcl-2 was positive in 8 cases (73%). VEGF and PR were each weakly positive in 3 cases. All cases were negative for Mib-1, ER and D2-40. The staining was localized around the endothelium. CONCLUSION: This is the first study to characterise in detail the immunohistochemical features of orbital CHs. The proliferative markers PCNA and Mib-1 show discordant expression in these lesions and the expression of PCNA and Bcl-2 in the absence of Mib-1 is indicative of low proliferative potential. Small subsets of these tumors express PR and VEGF, which may partly explain the proliferative capacity of some orbital CHs.

Characterization of lacrimal sac histology: an immunohistochemical study.

BACKGROUND: A prospective observational study in a university hospital setting to study the immunohistochemical (IHC) characteristics of non-neoplastic human lacrimal sac epithelium. METHODS: Twenty paraffin-embedded specimens of human lacrimal sac were studied using monospecific monoclonal antibodies to 34 beta E12, cell adhesion molecule (CAM 5.2), epithelial membrane antigen (EMA), cytokeratins (CK) 7 and 20, estrogen receptor and progesterone receptor. The distribution and histologic location of IHC staining were examined qualitatively, and the IHC stains scored as positive (+) or negative (-). RESULTS: The haematoxylin-eosin stains were reviewed for tissue morphology. All 20 specimens were positive for 34 beta E12, CAM 5.2, EMA and CK 7 and negative for CK 20, estrogen receptor and progesterone receptor. CONCLUSION: To our knowledge, this is the first study to characterize the IHC properties of human lacrimal sac epithelium. This epithelium appears to possess consistent IHC properties as it stains for 34 beta E12, CAM 5.2, EMA and CK 7 and this information would be potentially useful in differentiating tumours arising in the region of the lacrimal sac.

Orbital aspergillus infection diagnosed by FNAC.

Fungal infections of the orbit represent a small minority of orbital infections. However, due to the virulent nature of some of the fungal species, they can have a devastating effect on ocular functions. Most of these fungi are saprophytes, which cause opportunistic infections. Aspergillus is one such fungus that can cause infection at various sites in an immunosuppressed individual. Sinonasal aspergillus infection with orbital extension and orbital aspergillus infection progress relentlessly. They can have a precipitous clinical course resulting in total loss of vision. Fine needle aspiration cytology (FNAC) is rarely used as a preoperative diagnostic tool in the investigation of orbital mass lesions. Further, fungal infections of orbit are seldom diagnosed on FNAC. Two cases of fungal infection of the orbital and periorbital tissue diagnosed on FNAC are presented. A 50-year-old diabetic male presented with diminishing vision, pain, and forward protrusion of the left eye. On examination, he had upper eye lid fullness. A 55-year-old diabetic male presented with a swelling on the right upper eye lid. The patients were evaluated radiologically and then subjected to FNAC. The smears showed giant cells, histiocytes, epithelioid granulomas, and fungal hyphae. A diagnosis of fungal infection was arrived at which was subsequently confirmed by culture and biopsy. Orbital aspergillus infection can have a precipitous course. Computerized tomography and magnetic resonance imaging of the orbit provide crucial information. However, FNAC can help in making an early definitive diagnosis of fungal infection and thus obviate the need for a biopsy.

A multi-centre case series investigating the aetiology of hypertrophic pachymeningitis with orbital inflammation.

INTRODUCTION: To describe our attempt in establishing a definitive diagnosis in patients with hypertrophic pachymeningitis in combination with orbital inflammatory disease and report on the outcome. MATERIALS AND METHODS: This was a retrospective case series of all patients presenting with hypertrophic pachymeningitis in association with orbital inflammation in 4 centres. Ophthalmic and neurological examination data, laboratory data, histology data, treatment plans and clinical outcome data were recorded. Patients underwent orbital/brain computed tomography and magnetic resonance imaging. RESULTS: Six patients were identified; the median age was 46.5 years. Headache was the commonest presenting symptom, followed by diplopia and reduced visual acuity. Three patients underwent orbital biopsy, 1 patient underwent dura mater biopsy, 1 patient underwent both and 1 patient underwent nasal biopsy. Four patients were diagnosed with Wegener granulomatosis and 2 patients with tuberculosis. Corticosteroid therapy was initiated in 4 patients, with steroid-sparing drugs added later. Two patients received anti-tuberculosis treatment and 1 patient was commenced on pulsed cyclophosphamide. On follow-up, 1 patient required an exenteration for a painful blind eye and 1 patient's visual acuity remained at no perception to light. One patient had complete resolution of symptoms on treatment, 1 patient had persistent reduced visual acuity and 1 patient was lost to follow-up. CONCLUSION: We postulate that the combination of orbital inflammation and pachymeningitis is strongly suggestive of Wegener granulomatosis, although it may take a number of years to confirm. Tuberculosis should also be considered.

Lesions mimicking lacrimal gland pleomorphic adenoma.

AIM: To report a series of patients with lacrimal gland lesions simulating the clinicoradiological features of lacrimal gland pleomorphic adenoma (LGPA). METHODS: Multicentre retrospective, interventional case series. Clinical records of all patients with lesions mimicking LGPA seen in five orbital units were reviewed. RESULTS: The study included 14 patients (seven men and seven women) with a mean age of 50.9 years. The diagnosis of LGPA was made in all cases by experienced orbital surgeons, based on clinicoradiological features, and lacrimal gland excision was performed. Postoperative histology revealed lymphoma (four patients), chronic dacryoadenitis (three patients), adenoid cystic carcinoma (two patients), Sjogren's syndrome (two patients), cavernous haemangioma (one patient), benign lymphoid hyperplasia (one patient) and granulomatous dacryoadenitis (one patient). Comparison with the total number of histologically confirmed LGPA cases seen during the study period revealed that 22.6% of cases of suspected LGPA were misdiagnosed based on clinicoradiological criteria. CONCLUSIONS: Many different lesions may mimic the clinicoradiological features of LGPA. The accepted clinicoradiological criteria used for the diagnosis of LGPA have a high false-positive rate, even in experienced hands. Based on this study, the authors believe that fine-needle aspiration biopsy or intraoperative biopsy and frozen section diagnosis may help reduce unnecessary lacrimal gland excision.

Conjunctival inclusion cysts following small incision cataract surgery.

The occurrence of acquired conjunctival inclusion cysts following various ophthalmic surgeries such as strabismus surgery, scleral buckling, pars plana vitrectomy, ptosis surgery and phacoemulsification has been reported. We report two cases of conjunctival inclusion cysts following manual Small Incision Cataract Surgery (SICS) in two male patients aged 65 and 67 years. The cysts originated from the scleral tunnel used for manual SICS. Both were treated by excision and confirmed histopathologically. No recurrence was noted at three months follow-up. To our knowledge, conjunctival inclusion cysts following SICS have not been reported previously. Careful reflection of conjunctiva during tunnel construction and posterior chamber intraocular lens implantation may prevent their occurrence.

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Microspherophakia is an autosomal-recessive congenital disorder characterized by small spherical lens. It may be isolated or occur as part of a hereditary systemic disorder, such as Marfan syndrome, autosomal dominant and recessive forms of Weill-Marchesani syndrome, autosomal dominant glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome, autosomal dominant microspherophakia with hernia, and microspherophakia-metaphyseal dysplasia. The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families. Using a whole-genome linkage scan in one family, we identified a likely locus for microspherophakia (MSP1) on chromosome 14q24.1-q32.12 between markers D14S588 and D14S1050 in a physical distance of 22.76 Mb. The maximum multi-point lod score was 2.91 between markers D14S1020 and D14S606. The MSP1 candidate region harbors 110 reference genes. DNA sequence analysis of one of the genes, LTBP2, detected a homozygous duplication (insertion) mutation, c.5446dupC, in the last exon (exon 36) in affected family members. This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids. Microspherophakia in the second family did not map to this locus, suggesting genetic heterogeneity. The present study suggests a role for LTBP2 in the structural stability of ciliary zonules, and growth and development of lens.

Large drusen following long-standing retinal detachment.

We report an interesting finding of multiple large drusen in an eviscerated eye with a longstanding retinal detachment. The origin and composition of the drusen is also speculated on the basis of special stains.

Traumatic rupture of the superior oblique muscle tendon resulting in acquired Brown's syndrome.

Traumatic rupture of the superior oblique tendon is a rare cause of acquired Brown's syndrome. This report describes a case of traumatic rupture of the superior oblique tendon, distal to the trochlea, after injury with a plant hook. The ruptured tendon was reapproximated. Postoperatively, asymptomatic Brown's syndrome developed, although residual function of the superior oblique muscle was retained. Full-thickness upper eyelid lacerations, especially those caused by a hook, must be explored carefully to exclude superior oblique tendon rupture. Careful reapproximation of the tendon can result in residual muscle function.

Firecracker eye injuries during Deepavali festival: a case series.

We report a large series of ocular injuries caused by fire-crackers. This study was a hospital-based, singlecenter, retrospective case series in which the records of 51 patients with ocular injuries were analyzed. Injuries were classified according to Birmingham eye trauma terminology system (BETTS). Visual outcomes before and after the intervention were recorded. Ten patients were admitted for further management. As ocular firecracker injuries result in significant morbidity, public education regarding proper use of firecrackers may help in reducing the incidence of ocular injuries.

Diffuse bilateral orbital inflammation in Churg- Strauss syndrome.

A 33-year-old man was diagnosed with asthma and within 5 weeks developed bilateral periocular swelling. Examination revealed bilateral axial proptosis with conjunctival nodules. His blood tests revealed a positive p-antineutrophil cytoplasmic autoantibody with significant eosinophilia. MRI of the orbit showed enlarged extraocular muscles, lacrimal glands, and infiltrative changes in the orbital fat. Biopsy demonstrated granulomatous inflammation with eosinophil predominance. A diagnosis of diffuse bilateral inflammation in Churg-Strauss syndrome was made and the patient responded dramatically to prednisolone with resolution of systemic and orbital findings. The second case was a 72-year-old woman with a prolonged prodromal phase of asthma, paranasal sinus disease, and bilateral orbital involvement by a process consistent with reactive lymphoid hyperplasia on initial biopsy. Three years later she developed rapidly worsening orbital disease, marked peripheral eosinophilia, and orbital biopsy showed evidence of granulomatous inflammation with marked eosinophil infiltration and vasculitic changes, and a weakly positive antineutrophil cytoplasmic autoantibody. Hence, diffuse bilateral orbital inflammation occurring in the setting of asthma and peripheral eosinophilia should raise the possibility of Churg-Strauss syndrome and warrants biopsy as early institution of therapy can reduce both systemic and ophthalmic complications.

Coin-shaped epithelial lesions following an acute attack of erythema multiforme minor with confocal microscopy findings.

We report an interesting ocular finding of bilateral multiple coin-shaped epithelial lesions along with the confocal microscopy findings in a patient following an acute attack of erythema multiforme (EM) minor. A 30-year-old male presented with a history of watering and irritation in both eyes of three days duration. He was diagnosed to have EM minor and was on oral acyclovir. Slit-lamp examination revealed multiple coin-shaped epithelial lesions. Confocal microscopy showed a corresponding conglomerate of hyper-reflective epithelial lesions. The corneal lesions resolved over six weeks with oral steroids and acyclovir. An immunological mechanism is suspected.

Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis.

We report a rare presentation of Melkersson-Rosenthal syndrome in a patient with tubercular panuveitis. A 45-year-old male being treated with antitubercular therapy for tubercular panuveitis presented with unilateral, non-pitting right upper eyelid edema. Excision biopsy showed granulomatous inflammation involving the lymphatics. Immunohistochemistry confirmed the presence of histiocytes around the lymphatics.

Amyloidosis of lacrimal gland.

Primary localized amyloidosis of lacrimal gland is a rare occurrence. This report describes a female patient with isolated amyloidosis of the lacrimal gland. A 45-year-old Indian woman presented with a swelling over the left lacrimal gland region. Computed tomography showed uniform enlargement of the lacrimal gland. A lacrimal gland biopsy revealed amyloidosis. No systemic involvement was detected on further investigation. To our knowledge, this is the first report of lacrimal gland amyloidosis from India and our report also highlights the importance of lacrimal gland biopsy in diagnosing lacrimal gland masses.

Genetic testing in orbital tumors.

OBJECTIVE: This review aims to discuss the clinical application of cytogenetic and molecular testing in the diagnosis and prognosis of orbital tumors and, in so doing, highlight the basis of these methods, their advantages, and limitations. SUMMARY: Specific chromosomal aberrations are detected in many lymphoproliferative neoplasms, soft tissue tumors, and in a few benign tumors of the orbit. Detection of these characteristic chromosomal translocations is most helpful to refine the diagnosis and classification, especially when the tumor is poorly differentiated and shows overlapping morphological features with another tumor type. This review outlines orbital tumors with characteristic chromosomal translocations and the relative frequency of detecting the genetic mutation. Various genetic techniques are available for genetic testing, including karyotyping, fluorescence in situ hybridization (FISH), reverse transcriptase polymerase chain reaction (RT-PCR), and genomic polymerase chain reaction (PCR). As yet, the newer methods of array-comparative genomic hybridization (array-CGH) and expression profiling are most commonly used in research settings or in large specialist centers, and their general application to cancer diagnostics is limited by their cost. Therefore, this review focuses on the methodologies that should be available to most diagnostic units. It is true that "one size does not fit all" in this field and that a combination of molecular techniques may be needed to confirm results at the genomic and transcriptional levels.

Vertical lid split approach for optic nerve sheath decompression.

We describe a vertical lid split orbitotomy approach to perform optic nerve sheath fenestration which was done in a patient with idiopathic intracranial hypertension. A vertical lid split incision was used to enter the superomedial orbit and approach the optic nerve sheath. This approach resulted in a successful nerve sheath fenestration, with improvement in the patient's symptoms. The vertical lid split incision provides access to the optic nerve sheath with minimal morbidity and may be an option for optic nerve sheath decompression.

Pulsating enophthalmos in association with an orbital varix.

We report a case of pulsating enophthalmos secondary to orbital varix associated with orbital bony defects. A 64-year-old female with pulsating enophthalmos of the right eye was found to have a right orbital mass with bony defects of the orbit. Valsalva maneuver failed to induce proptosis. The diagnosis of orbital varix was confirmed by exploratory orbitotomy. During general anesthesia for orbitotomy, proptosis of the right eye was noted. Ophthalmologists should be aware of the association between orbital varices and cranial bony defects and encephaloceles. Proptosis induced by general anesthesia and positive pressure ventilation suggests an underlying distensible venous anomaly.