PURPOSE: To report a case of sympathetic ophthalmia (SO) after a severe Acanthamoeba keratitis. METHODS/DESIGN: Interventional case report. RESULTS: A 59-year-old white woman, wearing contact lenses, developed a severe Acanthamoeba keratitis in the left eye, which involved the limbus, and required 8 months of intensive antiamoeba therapy; the condition resolved leaving a painful, phthisical eye with complete corneal neovascularization. Six months later, the patient presented with pain, blurred vision, and photophobia in the right eye. Slitlamp examination of the right eye revealed granulomatous uveitis. On the suspicion of an SO, treatment with high-dose topical and oral corticosteroids and immunosuppressants was started. After 3 months, the eye is stable, with a visual acuity of 20/50, and the patient is taking prednisolone 7.5 mg per day and cyclophosphamide 50 mg per day. CONCULSIONS: Development of SO in the absence of previous trauma or surgery is rare. Our case is the first report of a clinically diagnosed SO after an episode of severe Acanthamoeba keratitis.

PURPOSE: To describe a rare case of conjunctival leiomyosarcoma initially diagnosed as a poorly differentiated squamous cell carcinoma. METHODS: Clinical, light microscopic, immunohistochemical, and ultrastructural findings are reported. RESULTS: A 56-year-old Caucasian woman was referred with a history of a progressive, rapidly growing mass in her left eye. Biopsy of the mass and histology yielded a first diagnosis of a poorly differentiated conjunctival squamous cell carcinoma. Orbital exenteration was performed 2 weeks later. Macroscopically, the exenteration specimen showed a soft mass completely involving the conjunctiva and extending to the eyelids and orbital structures. Histological examination revealed a malignant tumour composed of atypical, predominantly epithelioid large cells. Immunohistochemical and ultrastructural studies combined with the light microscopic findings contributed to clarify the diagnosis of epithelioid leiomyosarcoma. The patient was started on chemotherapy and radiotherapy, but died a few months later from widespread metastases. CONCLUSIONS: primary involvement of the orbit by a leiomyosarcoma is rare, but this eventuality should be considered in the differential diagnosis of rapidly growing orbital and conjunctival masses.

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BACKGROUND: The aim of this study was to identify the main features of a cohort of Caucasian patients with idiopathic (I) and systemic disease-associated (SDA) autoimmune uveitis (AU) who were followed up at a single tertiary reference center. The study consisted of a retrospective analysis of the demographic, clinical, and laboratory features and the response to treatment of 104 patients with AU evaluated between 2004 and 2013, with a median follow-up of 4.8 years. The primary outcome measure was the response to systemic treatment after 24 months of therapy. The data are expressed as the range, percentage, or mean ± standard error. Categorical variables were assessed by Fisher's exact test. RESULTS: The mean age at diagnosis was 40.1 ± 17.8 years for men and 44.1 ± 15.3 years for women. There was a slight female predominance. Of the 104 patients, 72.1% had I-AU and 27.9% SDA-AU. The most frequent associations were with ankylosing spondyloarthritis, autoimmune thyroiditis, inflammatory bowel diseases, and Behcet's disease. Symptoms at presentation consisted of eye redness and pain (28.8%), decreased visual acuity (25.9%), and floaters (18.3%). Complications included cataracts (24%), retinal neovascularization (16.3%), chorio-retinal scars (10.6%), cystoid macular edema (8.6%), glaucoma/ocular hypertension (7.7%), epiretinal membranes (4.8%), and retinal detachment (3.8%). The prevalence of autoantibodies, mostly antinuclear antibodies, was comparable between the I-AU and SDA-AU groups. Fisher's exact test showed a direct correlation between patients with class I HLA B27, Cw8, B5 (51, 52), B51, or Cw2 and the presence of AU, whereas among patients with class II HLA, only DQ1 was a predisposing factor for AU. The therapeutic spectrum included corticosteroids and immunosuppressive agents, given either alone or in various combinations according to the severity of AU and the extent of the clinical response. Among the immunosuppressive drugs, azathioprine was preferentially used for anterior uveitis, and cyclosporine-A for intermediate and posterior uveitis. An assessment of the patients after 24 months of therapy showed a complete remission in 43.3% and a significant clinical improvement in 26.9%. CONCLUSIONS: At our tertiary reference center, the prevalence in Caucasian patients of I-AU was approximately 2.5-fold higher than that of SDA-AU. Our findings point to the need for a patient-tailored therapeutic approach according to the anatomic site and the severity of AU. Therapy should be prolonged, over a period of months and even up to 1-2 years, in order to achieve stable control of the disease and to prevent severe complications. The outcome of SDA-AU is also influenced by treatment of the underlying systemic disease. Additional controlled trials are needed to assess the efficacy and the long-term safety of both the prescribed therapeutic agents and their combinations. KEYWORDS: Ankylosing spondyloarthritis; Autoimmune uveitis; Behcet's disease; Class I and II HLA; Corticosteroids; Immunosuppressive drugs

PURPOSE: To describe the genotype and phenotype in a 9-year-old boy with bilateral retinopathy. METHODS: The patient, his healthy (by history) nonconsanguineous parents and his sister were examined by best-corrected visual acuity, matrix frequency doubling technology, monocular static field analysis, fundus autofluorescence imaging, optical coherence tomography, Ganzfeld electroretinography (ERG), pattern ERG, multifocal ERG, electro-oculography and genotyping of the BEST1 gene. RESULTS: The patient presented with an Arden ratio of 1.25, an unremarkable ERG and fluorescent yellow deposits distributed throughout the fundus suggestive of autosomal recessive bestrophinopathy (ARB). Genotyping revealed a homozygous nonsense mutation in BEST1 (p.R200X). The parents and the sister, who were heterozygous mutation carriers, presented with normal ophthalmological function. CONCLUSIONS: ARB is a rare retinal disorder. We contribute a novel patient report indicative of ARB, assessed by clinical examination and confirmed by genotyping of BEST1, to the short list of ARB cases in the literature.

A 15-year-old boy underwent neurological and ophthalmological evaluation. At birth, a severe bilateral microphthalmia, micropenis, and scrotal hypoplasia were diagnosed. Ophthalmologic examination showed right anophthalmia and severe left microphthalmia. Radiological examination showed normal orbital and skull structures. Magnetic resonance imaging (MRI), revealed the absence of the right eye, left microphthalmia, optic nerve hypoplasia, aplasia of the optic chiasm, and tracts. Audiometric examination and electroencephalogram were normal. There was no mental retardation. The chromosomal examination was normal. The patient is examination was also negative for any type of known risk factors

Posterior Reversible Encephalopathy Syndrome (PRES) is a neurotoxic state accompanied by a unique brain imaging pattern. This cliniconeuroradiological entity usually present with visual disturbances (cortical blindness, homonymous hemianopia, visual neglect, blurred vision) along with neurotoxic manifestations. Only a few cases of PRES have previously been reported in patients with advanced HIV disease. The authors describe a case of Posterior Reversible Encephalopathy Syndrome (PRES) in a in patient with advanced HIV /TBC infection who developed a neurotoxic state following TB and ART therapy initiation. They present a comprehensive review of the literature and discuss the pathogenetic hypotheses.

Purpose: To report a case of Wernicke’s encephalopathy in a nonalcoholic woman with secondary hypoadrenalism. Methods: A 58-year-old Italian woman developed Wernicke’s syndrome secondary to recurrent vomiting due to secondary hypoadrenalism. Results: Recurrent vomiting and resulting malnutrition caused a depletion of the patient’s body stores of thiamine and the development of mental confusion and an oculomotor deficit. On the diagnostic suspicion of encephalitis in this patient with immunosuppression due to prolonged cortisone-based therapy, she underwent magnetic resonance imaging (MRI), which showed typical bilateral abnormal lesions pathognomonic of Wernicke’s encephalopathy. The patient improved after parenteral administration of vitamin B1. Conclusions: Wernicke’s encephalopathy must be regarded as a medical emergency that should be suspected in all cases presenting with a sudden deficit or lack of coordination of the ocular movements associated with ataxia and general degeneration of the mental faculties, in patients who have suffered recurrent vomiting or malnutrition for different reasons.

OBJECTIVES: The purpose of the present study was to describe our experience with the recombinant Fab' antibody fragment against TNF-α Certolizumab Pegol (CZP) in patients with Behçet's disease (BD) refractory to standardized therapies and previous biologic agents. METHODS: Retrieved data including demographic characteristics, clinical manifestations, and previous treatments were collected in three different specialized Rheumatologic Units in Italy. In order to evaluate disease activity, the BD current activity form (BDCAF) has been used before starting CZP therapy and at each visit during treatment. RESULTS: Thirteen BD patients (mean age 42.6 ± 8.8 years) with a disease duration of 8.80 ± 6.9 years, underwent CZP treatment for 6.92 ± 3.52 months. Six patients (46.15%) experienced a worsening of symptoms after 4.16 ± 1.21 months, whereas a satisfactory response was achieved in seven patients (53.84%) who were still on CZP therapy at the last follow-up visit (after 9.28 ± 3.03 months of treatment). The mean decrease of BDCAF between the first and last visit was 0.308 ± 1.84 without reaching significant difference (mean 8.3 ± 1.3 and 8 ± 2.08, respectively; p= .51). During the whole study period, CZP was well tolerated in all patients except one who developed a generalized cutaneous reaction after the third administration. CONCLUSIONS: These results suggest that despite an improvement of clinical manifestations has been observed in more than half of the patients, it is not possible to draw firm conclusions about the effectiveness of CZP in BD and further studies with larger cohorts of patients are warranted. Whether the increase of CZP dosage may ensure a better clinical response remains an unsolved issue that needs to be considered.

Abstract PURPOSE: To describe ultrasound biomicroscopy (UBM) features in a patient with Axenfeld-Rieger syndrome (ARS) and cataract before and after anterior segment surgery using intraocular lens (IOL) and aniridic ring implantation (Morcher Aniridia rings 50 D). METHODS: Visual acuity, subjective glare disability, intraocular pressure, endothelial cell density, and UBM imaging were reviewed over a period of 1 year. RESULTS: One month after surgery, the operated eye showed improved visual acuity and visual comfort, and UBM examination showed a well-centered IOL and well-aligned aniridic ring fins. After 8 months, UBM examination showed contraction of the capsular bag, which appeared wrinkled, fibrous, and thickened. The capsular bag comprised the aniridic ring fins, causing misalignment. The glare disability had dropped from grade 0 to 3. The same outcome was present at 1 year. CONCLUSION: Ultrasound biomicroscopy is a useful noninvasive diagnostic means to picture anatomic details before and after surgery; it suggested that capsular bag shrinking caused migration of the aniridic rings, 8 months after surgery.

Adalimumab (ADA) has been shown to be an effective treatment for Behçet's disease (BD)-related uveitis. We aimed at evaluating the cumulative retention rate of ADA during a 48-month follow-up period in patients with BD-related uveitis, the impact of a concomitant use of disease modifying anti-rheumatic drugs (DMARDs) on ADA retention rate, and differences according to the various lines of biologic therapy (ie, first- vs second-line or more). Predictive factors of response to ADA were also investigated.

The primary aim of the study was to evaluate the efficacy of tumor necrosis factor (TNF)-α blockers adalimumab (ADA) and infliximab (IFX) in refractory sight-threatening retinal vasculitis (RV) during a 12-month follow-up period. Secondary aims were to evaluate (i) any impact of concomitant conventional disease-modifying anti-rheumatic drugs (cDMARDs) and different lines of biologic therapy; (ii) any difference in terms of efficacy between ADA and IFX; (iii) consequences of biotherapies on the best-corrected visual acuity (BCVA); (iv) corticosteroid-sparing effect; and (vi) ocular complications during anti-TNF-α treatment. Demographic, clinical, and therapeutic data were retrospectively collected from the medical records and statistically analyzed. Forty-eight patients (82 eyes) were recruited, 22 (45.8%) of which received IFX and 26 (54.2%) ADA. The percentages of patients achieving RV remission within 3 and 12 months were 54 and 86%, respectively. A significant decrease in RV detection was identified from baseline to 3-month (p < 0.0001) and 12-month (p < 0.0001) assessments and between 3-month and 12-month visits (p = 0.004). No differences were identified in terms of RV resolution between (i) patients undergoing monotherapy and those co-administered with cDMARDs at 3-month (p = 0.560) and 12-month (p = 0.611) follow-up; (ii) biologic-naïve patients and those already exposed to other biologics at 3-month (p = 0.497) and 12-month (p > 0.99) visits; and (iii) patients treated with ADA and those treated with IFX (p = 0.357). During the study period, a statistically significant corticosteroid-sparing effect was observed (p = 0.0002), while BCVA values did not significantly change (p = 0.950). Anti-TNF-α monoclonal antibodies have proved excellent results in patients with recalcitrant sight-threatening RV.

Hepatocellular carcinoma rarely metastasizes to the orbit. We report a 45-year-old male, HBV+, HIV+, with a past history of a liver transplant for ELSD (End stage liver disease) with hepatocellular carcinoma and recurrent HCC, who presented with painful proptosis and diplopia of the left eye. CT scans of the head revealed a large, irregular mass in the left orbit causing superior and lateral destruction of the orbital bone. Biopsy specimens of the orbital tumor showed features of metastatic foci of hepatocellular carcinoma. Only 16 other cases of HCC metastasis to the orbit have been described in literature and this is the first case in a previously transplanted HIV+, HBV+ patient. Key words : Hepatocellular carcinoma, orbit, HIV+, HBV+, liver transplant.

PURPOSE: To report a masquerade syndrome secondary to multiple myeloma iris infiltration. DESIGN: Observational case report. METHODS: A 74-year-old Caucasian woman presenting with unilateral hypertensive uveitis and past medical history significant for multiple myeloma underwent aqueous cytology and a trabeculectomy with iridectomy. RESULTS: Cytology revealed atypical plasma cells in the aqueous while the anatomopathologic analysis of iris tissue demonstrated a substitution of the iris tissue by neoplastic plasma cells. After surgery and a new cycle of chemotherapy best-corrected visual acuity and intraocular pressure improved. CONCLUSIONS: Masquerade syndrome should always be considered in elderly uveitis. A correct diagnosis can be life-saving.

This study aimed to evaluate the role of interleukin (IL)-1 inhibitors anakinra (ANA) and canakinumab (CAN) in the treatment of Behçet's disease (BD)-related uveitis. Multicenter retrospective observational study includes 19 consecutive BD patients (31 affected eyes) received treatment with anti-IL-1 agents. Data were analyzed at baseline and at 3 and 12 months. The primary endpoint is the reduction of ocular inflammatory flares (OIF). The secondary endpoints are improvement of best corrected visual acuity (BCVA); reduction of macular thickness defined by optical coherence tomography (OCT) and of vasculitis identified with fluorescein angiography (FA); evaluation of statistically significant differences between patients treated with IL-1 inhibitors as monotherapy, subjects also administered with disease modifying anti-rheumatic drugs (DMARDs) and/or corticosteroids as well as between patients administered with IL-1 inhibitors as first line biologic treatment and those previously treated with TNF-α inhibitors. At 12 months, OIF significantly decreased from 200 episodes/100 patients/year to 48.87 episodes/100 patients/year (p < 0.0001). The frequency of retinal vasculitis identified by FA significantly decreased between baseline and 3- and 12-month follow-up visits (p < 0.0001 and p = 0.001, respectively). OIF rate was significantly higher in patients co-administered with DMARDs (81.8 episodes/100 patients/year) than in patients undergoing IL-1 inhibitors as monotherapy (0.0 episodes/100 patients/year) (p = 0.03). No differences were identified on the basis of corticosteroid use and between patients administered with IL-1 inhibitors as first line biologic approach or second line. Steroid dosage was significantly decreased at 12-month visit compared to baseline (p = 0.02). Treatment with IL-1 inhibitors is effective in the management of BD-related uveitis and provides a long-term control of ocular inflammation in refractory and long-lasting cases.

Purpose. In Italy we say that the most unlucky things can happen to physicians when they get sick, despite the attention of colleagues. To confirm this rumor, we report the sad story of a surgeon with bilateral vitreitis and glaucoma unresponsive to traditional therapies. Methods/Design. Case report. Results. After one year of steroidal and immunosuppressive therapy, a vitrectomy, and a trabeculectomy for unresponsive bilateral vitreitis and glaucoma, MRI showed a multicentre primary central nervous system lymphoma, which was the underlying cause of the masquerade syndrome. Conclusions. All ophthalmologists and clinicians must be aware of masquerade syndromes, in order to avoid delays in diagnosis.

[No abstract available]

A 65-year-old woman presented with a long standing, progressive exophthalmos of the right eye. Her medical history was significant for Churg Strauss syndrome, and was treated with immunosuppressive therapy. She had undergone two previous orbital biopsies showing inflammatory reactive lymphoid hyperplasia. A diagnosis of orbital inflammation in Churg-Strauss syndrome was suspected, and the immunosuppressive therapy was increased. Because of the lack of response to therapy, a further biopsy was performed, by lateral orbitotomy approach. Biopsy of the mass revealed a granular cell tumor composed of S-100 positive cells with an acidophilic granular cytoplasm and peripheral lymphocytic infiltration. A granular cell tumor, which is very rare in the orbit, should be considered in the differential diagnosis of orbital tumors, and if suspected, an excisional biopsy must be undertaken. Typical histopathological aspect of the granular cell tumor is characterized by the presence of S-100 positive closely packed polygonal cells with a granular cytoplasm

Orbital pseudotumor is a benign, idiopathic, non-infectious and non-neoplastic clinical syndrome characterized by the presence of an inflammatory mass at orbital level with no identifiable cause. The disease is rarely observed in the pediatric population. This article describes a relapsing bilateral orbital pseudotumor in a young girl. The diagnostic implications and treatment strategies are discussed.

Purpose: Description of a patient with a solitary cyst of the pupillary margin iris pigment epithelium (IPE). Methods: A 63-year-old man referred a suspected iris-ciliary body melanoma in his left eye. Based on both clinical examination and ultrasound biomicroscopy, melanoma was considered unlikely. Surgery was under-taken to correct recurrent deterioration of vision due to movement of the lesion across the visual axis. Results: The lesion was excised completely. Ultrasound biomicroscopy and histopathological examination ruled out melanoma and allowed a final diagnosis of primary pupillary margin cyst of the IPE, characterized of pig-mented epithelium, with no connective tissue or vessels. No recurrences or fresh lesions appeared during a one-year follow-up. Conclusions: Primary epithelial iris cysts are usually benign. Treatment is required only in symptomatic patients and those with an uncertain diagnosis. Ultrasound biomicroscopy is indispensable to confirm the clinical diagnosis, follow the clinical course and intervene if surgery is required.

We report three cases of proptosis, in children aged 6, 10 and 12, whereby in all cases the first clinical, radiologic and ultrasonographic diagnosis was lymphangioma, while the final anatomopathological diagnosis was rhabdomyosarcoma. In presence of a rapidly worsening exophthalmos or eyelid swelling in a child, an early correct diagnosis is very important. Imaging techniques play a very important role in the diagnosis, but are often inconclusive and an excisional biopsy (if feasible) must always be considered.

We report three cases of proptosis, in children aged 6, 10 and 12. In all cases the first clinical, radiologic and ultrasonographic diagnosis was lymphangioma, while the final anatomopathological diagnosis was rhabdomyosarcoma. In presence of a rapidly worsening exophthalmos or eyelid swelling in a child, an early diagnosis is very important. Imaging techniques have a very important role in the diagnosis, but are often not conclusive and a excisional biopsy (if feasible) must always be considered.

PURPOSE: To report ultrabiomicroscopy (UBM) evidence of choroid effusion as a cause of acute transient myopia in the onset of systemic lupus erythematosus. DESIGN: Observational case report. METHODS: A Caucasian 16-year-old girl was referred to the Hematology Department for progressive anemia, intermittent fever, and blurred vision. RESULTS: Systemic lupus erythematosus was confirmed by hematological investigations. UBM examination evidenced choroid effusion as the cause of a transient myopic shift. CONCLUSIONS: Early diagnosis, thanks to the performance of an ultrasound examination, enabled the timely institution of therapy and hence a rapid resolution of the symptoms.

Purpose: To evaluate circulating CD4+CD25+ regulatory T-cell populations in patients with autoimmune uveitis and to assess whether T-regulatory cell populations correlate with clinical features. Methods: Sixty-four patients with noninfectious uveitis were enrolled. Following isolation and purification of peripheral blood mononuclear cells, Tregs were analyzed by assessing FOXP3 expression on T cells with an APC anti-human FOXP3 staining kit. Samples were simultaneously stained with anti-CD25-PeCy7, anti-CD3- FITC, anti-CD4-PercP, and anti-CD152 (CTLA-4)-PE monoclonal antibodies. Results: A decrease in CD4+CD25+FOXP3+ T cells was detected in patients with active uveitis compared with healthy controls (p &lt; .05). In patients achieving clinical remission, the percentage of CD4+CD25+FOXP3+ T cells increased up to values comparable to those of healthy controls, in step with an increased expression of CTLA4. Conclusion: Therapy of autoimmune uveitis results in the increase of T-regulatory lymphocyte population and restoration of their functional state. These changes are likely to contribute to the patients' clinical improvement or disease regression.

Von Hippel-Lindau (VHL) disease is a dominantly inherited condition associated with tumors in multiple organs, whose treatment requires heightened multidisciplinary teamwork. Therefore, a document summarizing all the pertinent knowledge is needed to enhance coordination of care.