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Introduction: To describe the ocular manifestations and in vivo confocal microscopic findings in a patient carrying the recently described hemizygous G171S GLA gene mutation. Case description: A 63-year-old Albanian male patient was evaluated for cataract surgery. Anamnesis showed pacemaker implantation in left ventricular hypertrophy, chronic kidney disease, family history for kidney transplantation, and late onset of sporadic acroparesthesias. Bilateral cornea verticillata, and increased tortuosity in conjunctival and retinal vessels were present. In vivo confocal microscopy revealed clusters of hyper-reflective corneal epithelial cells centripetally extending from the limbus. Interestingly, the nerve fiber number, density, and length in the corneal sub-basal nerve plexus were preserved. Alpha-galactosidase A activity was almost absent and hemizygous c.511G>A mutation (G171S – p.Gly171Ser) of the GLA gene was identified. The patient was referred for initiation of enzyme replacement therapy, and genetic counseling was recommended for at-risk family members. Conclusion: This is the third reported case of Fabry disease due to GLA G171S mutation. All patients are of Albanian descent. Cornea verticillata and vascular anomalies remain common ocular manifestations, as well as cardiac and renal involvement. Confirming its pathogenicity, this mutation results in a “classic” Fabry disease phenotype, but it seems to be associated with a relative small nerve fiber sparing that may delay a correct diagnosis. The diagnosis of Fabry disease still remains challenging due to its clinical heterogeneity, but a thorough ophthalmological examination can promote early detection and, consequently, early initiation of enzyme replacement therapy.

Toxoplasma gondii is a widespread protozoan parasite infecting approximately one third of the world population. After proliferation of tachyzoites during the acute stage, the parasite forms tissue cysts in various anatomical sites and establishes chronic infection. Nowadays the nature of the interplay between the protozoan and its human host remains elusive. This is clearly evident in ocular toxoplasmosis, in which the parasite establishes an ambivalent relationship with the eye, manipulating the immune response and inducing variable initial lesions and further relapses. This review will focus on epidemiology and environmental, parasite and host related risk factors, clinical manifestations and laboratory findings, treatment and prophylaxis approaches in ocular toxoplasmosis. An image collection of patients referred to the Unit of Ophthalmology of Pisa's Hospital will be presented, too.

(i) To analyze the in vivo corneal structure and sub-basal plexus nerves in patients with primary Sjögren's syndrome (pSS) and no-SS dry eye by confocal scanning laser microscopy (CSLM) and (ii) to correlate CSLM findings with tear function tests and with patients' subjective dryness.Seventeen patients with pSS, 16 no-SS dry eye, and 20 healthy volunteers were included. CSLM parameters taken into consideration included: basal epithelial integrity, corneal thickness, epithelial cellular density, keratocyte activation, and sub-basal plexus morphology. Statistical analysis was carried out using SPSS-13 (Chicago IL, USA).CSLM pachymetric data and the superficial epithelium cell density were significantly lower in pSS versus no-SS dry eye (p0.0001); keratocyte activation and sub-basal nerve abnormalities were also more frequent in pSS patients (p0.0001). CSLM findings well correlated with both the ocular test results and the patients' perception of ocular dryness at the baseline and over the follow-up.CSLM might be a useful novel tool in the assessment of the involvement of the lachrymal functional unit in pSS.

Aim: Limbal cultures restore the corneal epithelium in patients with ocular burns. We investigated the biological parameters instrumental for their clinical success. Methods: We report a long-term multicenter prospective study on 152 patients carrying corneal destruction due to severe ocular burns, treated with autologous limbal cells cultured on fibrin and clinical-grade 3T3-J2 feeder cells. Clinical results were statistically evaluated both by parametric and nonparametric methods. Results: Clinical outcomes were scored as full success, partial success and failure in 66.05, 19.14 and 14.81% of eyes, respectively. The total number of clonogenic cells, colony size, growth rate and presence of conjunctival cells could not predict clinical results. Instead, the clinical data provided conclusive evidence that graft quality and likelihood of a successful outcome rely on an accurate evaluation of the number of stem cells detected before transplantation as holoclones expressing high levels of the p63 transcription factor. No adverse effects related to the feeder layer have been observed and the regenerated epithelium was completely devoid of any 3T3-J2 contamination. Conclusion: Cultures of limbal stem cells can be safely used to successfully treat massive destruction of the human cornea. We emphasize the importance of a discipline for defining the suitability and the quality of cultured epithelial grafts, which are relevant to the future clinical use of any cultured cell type.

The authors measured extraocular muscle thickness in normal subjects and in patients affected by Graves’ disease, using a Sonomed A-2000 echobiometer (probe with 10-MHz frequency); Hertel’s exophthalmometry was also performed. Statistically significant differences in muscle thickness between normals and patients were found. This technique seems to be sufficiently useful and reliable in extraocular thickness evaluation, showing data similar to those of the recent literature.

Two cases of posterior inflammatory scleritis are described. The authors show the echographic findings, pointing out the helpfulness of diagnostic ultrasound and the crucial role in monitoring these diseases with A scan examinations to obtain clear results of therapy, even if subjective symptoms disappear.

In the period between February 1992 and June 1996, the authors performed extra-ocular muscle echobiometry on 163 patients with Graves’ disease. The aim of this study is the evaluation of changes occurring in several clinical stages. The authors noted an increase in internal muscular reflectivity in the advanced phases and an irregular structure in the early stages. Controversial results in the literature warrant mastery of the method and further research.

Ultrasound biomicroscopy (UBM) was employed in the assessment of the anterior chamber in patients affected by penetrating and blunt traumas. UBM detected correctly the extent and the localization of penetrating injuries and the presence of foreign bodies, IOL dislocation, and angular structures or ciliary body damages.

This retrospective study was undertaken to evaluate the utility of Ultrasound Biomicroscopy (UBM) in the assessment of the anterior chamber in patients affected by silicone oil-related glaucoma after vitreoretinal surgery. UBM showed high reflectivity of angular structure, anterior chamber alterations and a fairly trophic ciliary body.

Chronic central serous chorioretinopathy (C-CSC), also known as diffuse retinal epitheliopathy or gravitational epitheliopathy was first recognized as an independent disease by Zweng and Little in 19771. C-CSC is characterized by a diffuse, frequently bilateral alteration of the retinal pigment epithelium (RPE), prevalently at the posterior pole. It has a chronic and progressive course and the final prognosis for preservation of a good visual acuity is usually unfavourable1–6.

Background Assessment of quality of life in primary Sjogren’s syndrome (pSS) has been generally performed employing generic measures of well-being, psycological distress, and fatigue without ocular dimensions. Objectives (i) to assess vision-targeted health related quality of life (VT-HRQ) in patients with pSS in comparison to patients with different causes of dry eye using a dry-eye-disease specific instrument; (ii) to examine the association between VT-HRQ and ocular surface parameters in pSS focusing on patients’ perception of symptoms, Schirmer’s test, tear breakup time (TBUT), lissamine green staining (LGS) and artificial tear usage. Methods Consecutive patients fulfilling the AECG criteria for pSS (mean age ±SD =56±14 yrs; mean disease duration ±SD =4.2±4.6 yrs) underwent Schirmer’s testing without anesthesia, TBUT and LGS. Sex and age matched subjects with non-autoimmune dry-eye-disease were enrolled as controls. Subjects were administered the Ocular Surface Disease Index (OSDI), a 12-item questionnaire articulated in three subscales for the assessment of symptoms related to dry eye disease vision-related function, environmental triggers and their effect on vision. Patients’ perception of symptoms was also assessed by VAS for dry mouth, dry eye, fatigue and pain. The ESSDAI was calculated in order to evaluate pSS activity. Patients’ clinical, serological and histological features were also recorded. Spearman’s rho, chi square and ANOVA-test were used for statistical analysis. Results Thirty-six pSS female (mean age ±SD =56±14 yrs; mean disease duration ±SD =4.2±4.6 yrs) and 28 controls were enrolled in the study. According to the OSDI questionnaire, a “normal” score (0-12) was detected in 5/64 (13.9%) pSS patients and in 6/28 (21.4%) controls, a “mild” severity score (13-22) in 6/64 (16.7%) pSS patients vs 3/28 (10.7%) controls, a “moderate” score (23-32) in 6/64 (16.7%) pSS patients vs 6/28 (21.4%) controls, and a severe dry eye (33-100) in 19/64 (52.8%) pSS patients vs 13/28 (46.4%) controls, respectively. Overall, no differences were found in the OSDI score between pSS and non-autoimmune dry eye patients. Correlations between conventional objective measures of dry eye and OSDI/VT-HRQ were acceptable for GLS and TBUT (r=-0.53), but not statistically significant for Schirmer’s test (r=-0.19). The strongest associations of the questionnaire was for patients’ ocular (r=0.67) and fatigue VAS (r=0.52). A statistically significant correlation was also found between OSDI and artificial tear usage (p=0.003). No correlations were found between OSDI and patients’ age, menopausal status, concomitant thyroiditis, ESSDAI score or positivity for antinuclear antibodies, anti-Ro/SSA, anti-La/SSB and Rheumatoid Factor. Conclusions The OSDI is a useful instrument to assess quality of life in patients with dry eye disease; given its strong association with patients’ perception of symptoms OSDI might be considered as an useful end point in pSS clinical trials. Disclosure of Interest None Declared

The authors assessed the regression of choroidal tumors, following irradiation treatment, by means of B scan sonography (Sonomed B 3000). Thirty-two patients were studied, 12 of whom underwent brachytherapy with 106Ru plaques and 20 of whom were treated with accelerated protons. After a follow-up period of 12 months, the following was observed: reduction of the thickness of the tumor (significantly greater in the tumors which underwent brachytherapy) and morphological and structural changes which consisted in a thinning of the tumor and an increased reflectivity.