Background: Lachrymal gland (LG) involvement in patients with Graves' Ophthalmopathy (GO) has been considered as a potential cause of the associated GO symptoms and different studies found that the LG measurements were significantly higher in patients with GO than healthy controls. The aim of this study was to evaluate LG involvement, through measurement of herniation compared the interzygomatic line using magnetic resonance imaging (MRI), in patients with different GO activity.Methods: Thirty-two consecutive Caucasian patients (10 M, 22 F, mean age 49.5, IR 30-68 yrs), affected by GO were enrolled and grouped in group A (16 with inactive GO, CAS<3) and B ( 16with active GO, CAS≥3) according to their GO activity. All patients underwent clinical, biochemical and morphological thyroid assessment, complete ocular evaluation and orbital MRI examination.Results: No significant difference was found for the hormonal parameters and thyroid ultrasoundderived parameters between the two groups. TRAb levels were slightly higher, although not significantly, in group B than group A [2.76 (0-40) vs. 1.74 (0-13.8) UI/L; p=0.073)]. The LG herniation measurement evaluated by MRI was significantly higher in group B for both right [10.1 (7.3-17) vs. 7 (0-13.4) mm; p=0.004)] and left [8.5 (6.6-13) vs. 5.8 (0-12) mm; p=0.026)] eye than group A. A linear positive correlation was found between TRAb levels and LC herniation (Rho 0.462, p=0.009) in all patients.Conclusions: Measurement of LG herniation seems to be a good marker of the disease and GO activity, although further larger studies are needed to better understand this association.

The personality study is an extremely important part of the diagnostic work-up and treatment of OAG.

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defects, and developmental delay. Genotype-phenotype correlations of previously published patients have strongly suggested anterior eye segment anomalies as one of the major malformations of the syndrome if the critical 6p25 region contains the FOXC 1 gene. In addition, the presence in this region of one or more genes involved in hearing loss has been hypothesized. We report a patient with a 47,XYY karyotype and submicroscopic terminal 6p deletion. Further characterization of the deletion with array comparative genome hybridization also revealed a cryptic microduplication on chromosome 19. The patient showed dysmorphic features, neuromotor retardation, and profound language impairment, in absence of hearing loss and structural eye anomalies. As far as we know this is the first reported terminal 6p25.1 deletion case without eye dysgenesis precisely characterized by array-CGH. Our result suggests that the genes in this region may not be obvious candidates for hearing loss and demonstrate the need for further elucidation of the function of the genes involved in eye developmental processes.

Aim:To evaluate the possible causes of the greater perimetric damage found in OAG subjects with type A behaviour and the possible role of psycho-physiological stress. Materials and methods: 80 patients with OAG, 44 women and 36 men, 40 with type A behaviour and 40 with type B studied with the Type A/B Personality Questionnaire (A modified version of the Jenkins Activity Survey), underwent a complete ophthalmologic examination consisting of bio-microscopy, tonometry and daily tonometric curve, examination of the visual field by means of Octopus 1-2-3 computerised perimeter and its assessment with the Glaucoma Staging System 2 (GSS2), morphological monitoring of the Retinal Nerve Fibre Layer (RNFL) with GDxVCC and monitoring of arterial tension (times 8.30 am-10.30 am-12.30 pm-3 pm-5 pm and 7 pm) with a UA-1010 automatic Digital Blood Pressure Monitor device. Results: In subjects with type A behaviour fluctuation in IOP values is observed in the daytime hours in concomitance with similar oscillations in arterial pressure values. In the subjects with type B behaviour both IOP and the arterial pressure values remain more or less constant with oscillations that are not statistically significant. In GSS2 more significant impairment of the visual field is observed in subjects with type A behaviour. In the same subjects, GDxVCC examination shows statistically significant impairment of the values. The NFI index is positively correlated with the perimetric damage (r=0.74). Conclusions: Personality study is an extremely important part of the diagnostic work-up and treatment of OAG. The frequent oscillations in IOP observed in subjects with type A behaviour could constitute a risk factor in the evolution of perimetric damage.

Purpose Our study aimed to evaluate through OCT, in a homogeneous group of subjects with various degrees of myopia, the macular thickness and that of the RNFL with the purpose of highlighting the possible presence of a correlation between their impairment and the degree of myopia. Methods 83 students of the Faculty of Medicine and Surgery of the University of Palermo were considered, distinguished into 4 groups, 3 of them according to the degree of myopia and the last group (control group) was made of emmetropic subjects. Each subject was submitted to a determination of visual acuity and refractive defect and evaluation of the thickness of the macular fibres and of the retinal nerve fibre layer (RNFL) through OCT (Stratus Oct 3000 ‐ Carl Zeiss Meditec inc.). Results With a growth in axial length there was a reduction in the average macular thickness in all quadrants of the parafovea with the exception of the superior one. By contrast, in the foveola and fovea there was an increase in thickness with a rise in the refractive defect. The lowest thickness was found in the emmetropic subject. Conclusion The data found therefore allow us to conclude, in agreement with others, that the progressive increase in axial length in myopic subjects involves reshaping of the arrangement of the nerve fibres which needs to be taken into account, especially in subjects with glaucoma that are also very myopic.