Elizabeth Margaret McElnea

Purpose: The aim of this study was to describe the case of a 9-year-old girl with inferior arcus in her right cornea and discrete inferior lipid deposition in her left cornea. Methods: Serum cholesterol and lipid levels were measured under general anesthesia for treatment with fine-needle cautery and subconjunctival bevacizumab. Results: Serum cholesterol and low-density lipoprotein were elevated at 12 mmol/L (normal range 3–5 mmol/L) and 10.8 mmol/L (normal range ABCG5 ) gene consistent with sitosterolemia, a rare, autosomal recessive disorder of lipid metabolism. Mutations in the ABC genes result in ineffective transport of plant sterols into the intestinal lumen and their subsequent accumulation in the blood. The girl's cholesterol and lipid profile returned to normal following dietary restriction of plant sterol intake and treatment with ezetimibe 10 mg daily and atorvastatin 10 mg daily. Conclusions: This is the first reported case of a discrete lipid deposit at the cornea in a patient with sitosterolemia. Untreated, patients with sitosterolemia can develop coronary artery disease early in life. Ophthalmologists should be aware of the potential for underlying disorders of lipid metabolism in young patients with corneal arcus and/or lipid keratopathy.

We report the use of Descemet stripping automated endothelial keratoplasty (DSAEK) for the treatment of sterile corneal perforation after trauma. In an eye with corneal perforation and cataract due to trauma, cataract surgery and DSAEK were performed. Corneal integrity was promptly restored and the patient avoided tectonic anterior lamellar and penetrating keratoplasty. DSAEK may be performed for the management of corneal perforation.

A 78-year-old Caucasian woman presented with pain in her right and only eye that was worse on abduction. Her history was significant for a choroidal melanoma affecting her left eye for which she underwent an orbital exenteration 12 years previously. Computed tomography and magnetic resonance imaging of the right orbit identified a mass lesion affecting the medial rectus, suspicious for metastatic melanoma. A histopathological diagnosis of metastatic melanoma was subsequently made following biopsy of the right medial rectus.

To examine the management and associated outcomes of reported cases of interface fungal infection after Descemet stripping automated endothelial keratoplasty (EK). A literature review identified reports of interface fungal infection after Descemet stripping automated EK. Data retrieved from the same included patient demographics, surgical procedure undertaken, donor rim culture result, clinical course, and outcome. A review of the relevant literature was also conducted. Twenty-four cases of interface fungal infection after Descemet stripping automated EK were analyzed. Mean age of those affected was 66 years with range 52 to 85 years. Interface fungal infection after Descemet stripping automated EK was noted at a mean of 49.2 days postoperatively. Candida species were the causative infection in 79% cases. Penetrating keratoplasty was eventually performed in 79% of cases. The mean posttreatment best-corrected visual acuity was 0.44 logMAR. Penetrating keratoplasty is frequently required to eliminate interface fungal infection after Descemet stripping automated EK. A satisfactory visual outcome is usually achieved.

While pyoderma gangrenosum (PG) most commonly affects the skin it can also involve other organs. It rarely affects the eye, orbit, or adnexa. Its early recognition and proper management with prompt initiation of immunosuppressive therapy are essential for the preservation of the eye and, in turn, vision, in these cases. Here, we review the limited literature already published regarding ocular involvement in PG.

We describe the presentation and subsequent management of a case of keratitis caused by Neisseria gonorrhoeae. A thirty-nine year old gentleman presented with a purulent ocular discharge. Corneal melt with corneal perforation occurred. Neisseria gonorrhoeae was cultured. Systemic and topical antibiotics were given. Deep lamellar keratoplasty was performed for corneal perforation. At three months post treatment no recurrence of infection was noted. The possibility of Neisseria gonorrhoeaea keratitis should always be considered in patients with a purulent ocular discharge even if the case history is not immediately suggestive of the same. Severe gonococcal keratitis may be unilateral. Deep lamellar keratoplasty can be considered as a therapeutic option in patients with severe gonococcal keratitis.

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. 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. 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. 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.