Insidious ocular surface lesion in an 81-year-old woman.

Ocular surface melanoma (OSM) is rare. An 81-year-old Caucasian woman presented with a 4-month history of right eye pain and reduced vision. Histopathological examination of the excisional biopsy identified invasive amelanotic melanoma of the conjunctiva expressing Melan A and SOX10. X-ray of chest, CT of liver and MRI of the brain and orbit did not identify macroscopic metastases. She was given adjuvant topical mitomycin-C 0.04% for four cycles of 2 weeks. Her vision improved and the cornea was clear at 6 months.

Ptosis, ophthalmoplegia and corneal endothelial disease - ocular manifestations of mitochondrial disease.

PURPOSE: To describe two patients with bilateral ptosis, ophthalmoplegia, cataracts and corneal endothelial disease requiring corneal transplantation. OBSERVATIONS: Histopathological analysis of muscle biopsy samples from both patients identified features consistent with a mitochondrial cytopathy. A single multigenic mitochondrial deoxyribonucleic acid (DNA) deletion was detected in the first patient. Pathogenic mutations in the POLG gene which codes for mitochondrial DNA polymerase, tasked with replicating the mitochondrial genome were identified in the second patient. CONCLUSION: The collection of clinical features present in both cases described can be explained by a diagnosis of mitochondrial disease. IMPORTANCE: Corneal endothelial disease, in addition to ptosis, ophthalmoplegia, cataract, pigmentary retinopathy and optic atrophy should be recognised as a feature of mitochondrial disease.

Rhegmatogenous retinal detachments: primary reattachment rates and visual outcomes over a 4-year period.

BACKGROUND AND AIMS: To describe rhegmatogenous retinal detachment surgery in a Dublin tertiary referral centre over a 4-year period and to examine factors predictive of surgical and anatomical success. METHODS: A retrospective study was performed by reviewing the surgical log and the charts of patients who underwent a primary retinal detachment repair in a specialist centre over a 4-year period between 2012 and 2015. We excluded exudative and tractional cases. Multiple parameters were recorded including macular status, visual acuity, type of procedure, complications and visual and anatomical outcomes at 6 months post operation. Primary reattachment rate was calculated alongside change in visual acuity. Chi-square testing and analysis of variance were utilized to determine the effect which lens status, macular status, extent of breaks and type of procedure had on outcome and visual success. RESULTS: A total of 613 primary rhegmatogenous retinal detachment repairs were performed over the 4-year period. Our primary reattachment rate was calculated to be 88.58% (annual range 85.25-91.30%) with a perioperative complication rate of 2.94%. We noted a statistical significant improvement in VA with a median logMAR VA of 1.0 at presentation to 0.5 at 6 months post procedure. Macular status (chi-square test p = 0.15, X2 = 2.072) and lens status (chi-square test p = 0.2974, X2 = 1.086) had no statistical effect on the final anatomical outcome. However, eyes with giant retinal tears were more likely to redetach than those without (chi-square test p = 0.0069, X2 = 7.3). There was no statistical significant difference in the proportion of eyes achieving visual success by surgery category (one-way ANOVA analysis p = 0.501). CONCLUSIONS: This is the first study of its kind in Ireland and will help surgeons benchmark their results against international standards in the future. Accurate recording of logMAR acuity and intraoperative complications is imperative to assist with prospective studies.

Acquired lacrimal drainage apparatus obstruction in children.

BACKGROUND: Pediatric acquired lacrimal drainage apparatus (LDA) obstruction is much rarer than congenital LDA obstruction. Its etiology and treatment outcomes have not been well defined. Our aim was to examine the etiology and management of acquired LDA obstruction in children and report the results of its management. METHODS: We retrospectively reviewed the medical records of patients ≤16 years of age who presented with acquired epiphora to investigate the causes and describe the management of this condition. RESULTS: A total of 31 patients (16 males [52%]) were included. Mean age of patients was 10.9 years (range, 3-16). The main causes of acquired LDA obstruction were keratoconjunctivitis, herpes simplex blepharokeratoconjunctivitis, and trauma. Silicone tube intubation, endonasal or external dacryocystorhinostomy, and the insertion of lacrimal bypass tubes were the mainstays of management. CONCLUSIONS: It is important to suspect acquired LDA obstruction in children with acquired, persistent epiphora. Surgical management is similar to that in adults.

Lacrimal Gland Orbital Lobe Cysts Associated With Lymphoid Hyperplasia or Mucosa-Associated Lymphoid Tissue Lymphoma in Patients With Chronic Autoimmune Disease.

Large cysts in the orbital lobe of the lacrimal gland are rare and are associated with Sjögren syndrome and B-cell mucosa-associated lymphoid tissue lymphoma. The authors describe 4 new cases of large orbital lobe lacrimal gland cysts. The first 2 patients, both with Sjögren syndrome, had unilateral cysts associated with chronic inflammation. Mucosa-associated lymphoid tissue lymphoma was also identified in the cyst wall of the second case and could not be completely excluded in the first case. The third patient, with a history of rheumatoid arthritis, had bilateral cysts, again associated with mucosa-associated lymphoid tissue lymphoma. The fourth patient, with no history of systemic disease, had a unilateral cyst associated with reactive lymphoid hyperplasia. Finally, the authors report the long-term outcomes of 3 previously reported cases.

Hybrid Neurofibroma/Schwannoma of the Orbit.

A 68-year-old female presented for assessment of a space occupying lesion of her right orbit, demonstrated on MRI. An upper lid crease anterior orbitotomy was performed and the lesion excised completely. Postoperatively, she had reduced sensation in the distribution of the supraorbital nerve. Histopathologic examination of the excised lesion revealed a hybrid neurofibroma/schwannoma. This represents the fourth reported case of such a lesion arising within the orbit.

Lipofuscin accumulation and autophagy in glaucomatous human lamina cribrosa cells.

BACKGROUND: Disease associated alterations in the phenotype of lamina cribrosa (LC) cells are implicated in changes occurring at the optic nerve head (ONH) in glaucoma. Lipofuscin, the formation of which is driven by reactive oxygen species (ROS), is an intralysosomal, non-degradable, auto-fluorescent macromolecule which accumulates with age and can affect autophagy - the lysosomal degradation of a cell's constituents. We aimed to compare the content of lipofuscin-like material and markers of autophagy in LC cells from normal and glaucoma donor eyes. METHODS: The number and size of peri-nuclear lysosomes were examined by transmission electron microscopy (TEM). Cellular auto-fluorescence was quantified by flow cytometry. Cathepsin K mRNA levels were assessed by PCR. Autophagy protein 5 (Atg5) mRNA and protein levels were analysed by PCR and Western blot. Protein levels of subunits of the microtubule associated proteins (MAP) 1A and 1B, light chain 3 (LC3) I and II were analysed by Western blot. Immunohistochemical staining of LC3-II in ONH sections from normal and glaucomatous donor eyes was performed. RESULTS: A significant increase in the number of peri-nuclear lysosomes [4.1 × 10,000 per high power field (h.p.f.) ± 1.9 vs. 2.0 × 10,000 per h.p.f. ± 1.3, p = 0.002, n = 3] and whole cell auto-fluorescence (83.62 ± 45.1 v 41.01 ± 3.9, p = 0.02, n = 3) was found in glaucomatous LC cells relative to normal LC cells. Glaucomatous LC cells possessed significantly higher levels of Cathepsin K mRNA and Atg5 mRNA and protein. Enhanced levels of LC3-II were found in both LC cells and optic nerve head sections from glaucoma donors. CONCLUSIONS: Increased lipofuscin formation is characteristic of LC cells from donors with glaucoma. This finding confirms the importance of oxidative stress in glaucoma pathogenesis. Intracellular lipofuscin accumulation may have important effects on autophagy the modification of which could form the basis for future novel glaucoma treatments.

Resolution of idiopathic granulomatous orbital inflammation with intraorbital triamcinolone.

A 77-year-old man presented with a right lower eyelid swelling. Biopsy and histopathology of the lesion identified idiopathic granulomatous orbital inflammation. Clinical resolution of this patient's orbital mass was achieved with injection of 40 mg triamcinolone acetonide, perilesionally, at three sites in the right orbit. Such treatment may thus form an alternative to oral corticosteroid therapy in the management of granulomatous orbital inflammation.

Porous orbital implant exposure: the influence of surgical technique.

OBJECTIVES: To examine orbital implant exposure rates following enucleation and evisceration. METHODS: A retrospective chart review of all patients who underwent an evisceration or enucleation in a single centre over a 5-year period was performed. The indication for surgery, the type and size of orbital implant used, details of the surgical technique adopted and the postoperative complications observed, in particular orbital implant exposure, were recorded. RESULTS: Over a 5-year period 24 patients had enucleation and 14 had evisceration; 22 of these procedures were performed by an ophthalmic surgeon with a special interest in orbit and oculoplastics while the remaining 16 procedures were performed by 5 ophthalmic surgeons with other sub-specialty interests. Orbital implant exposure occurred in 8 cases. One case had been performed by the first of these surgeons described. Implant exposure occurred in 4% of cases performed by this surgeon. The remaining 7 cases had been performed by the group of surgeons with sub-specialty interests outside of orbit and oculoplastics. Implant exposure occurred in 48% of cases performed by this group. CONCLUSIONS: Orbital implant exposure remains a significant cause of morbidity in patients undergoing enucleation and evisceration. Rates of orbital implant exposure were significantly lower when surgery was performed by an orbital surgeon. Differences in surgical technique are the most likely explanation.

Revesz syndrome masquerading as bilateral cicatricial retinopathy of prematurity.

Dyskeratosis congenita is a group of rare genetic bone marrow failure syndromes. Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia. We report the case of an 11-month-old boy with bilateral cicatricial retinal detachments associated with fibrovascular proliferation. Genetic testing ultimately confirmed a diagnosis of Revesz syndrome, which can mimic cicatricial retinopathy of prematurity. Prompt referral to a hematologist expedites diagnosis and treatment.