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Francesco Stringa, Federico Marzi, Laura Giannì, Manuela Imparato, Alessandro Bianchi, Paolo Emilio Bianchi University of Pavia, Faculty of Medicine, University Eye Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy Purpose: To describe the efficacy and safety of a single intravitreal implant of dexamethasone in a patient affected by radiation maculopathy due to proton beam radiotherapy for choroidal melanoma.Patient and methods: Retrospective data of a 46-year-old woman treated with a single intravitreal injection of dexamethasone for radiation maculopathy due to proton beam radiotherapy were collected. The main outcome measures were best-corrected visual acuity and central retinal thickness. Intraocular pressure, anterior segment evaluation with slit lamp, macular changes depicted with spectral domain optical coherence tomography, retinal perfusion studied with fundus fluorescein angiography, and grade of macular edema using the Horgan classification were also evaluated during a 16-month follow-up.Results: Macular edema occurred 25 months after radiation treatment in the left eye. The patient underwent a single intravitreal implant of dexamethasone. Preinjection visual acuity and central retinal thickness were 6/12 and 502 µm, respectively. After 8 months, visual acuity was 6/6 and remained stable until 16 months. Central retinal thickness was 269 µm at 16 months.Conclusion: A single intravitreal implant of dexamethasone could effectively and stably improve visual acuity and central retinal thickness in some patients with radiation macular edema for 16 months after injection. Keywords: retina, radiation maculopathy, macular edema, corticosteroid

Purpose: To describe the neuroanatomical correlates of unilateral congenital isolated oculomotor palsy by means of high-resolution MRI., Methods: Children with a clinical diagnosis of congenital isolated oculomotr palsy and with a high-resolution MRI acquisition targeted on the orbits and cranial nerves were selected and included in the study. An experienced pediatric neuroradiologist evaluated all the exams, assessing the integrity and morphology of extraocular muscles, oculomotor, trochlear and abducens nerves as well as optic nerves and globes. Clinical data and ophthalmologic evaluations were also collected., Results: Six children (age range: 1-16 years; males: 3) were selected. All patients showed, on the affected side (left:right = 5:1), anomalies of the III nerve and extraocular muscles innervated by the pathological nerve. One patient had complete nerve agenesis, two patients showed a diffuse thinning of the nerve, from the brainstem to the orbit and 3 patients showed a distal thinning of the oculomotor nerve, starting at the level of the cavernous sinus. In all cases atrophy of corresponding muscles was noticed, but the involvement of the affected muscles varied with the nervous pattern of injury., Conclusions: High-resolution MRI represents a valuable tool for the diagnosis of III nerve anomalies in unilateral congenital IOP, showing different patterns of nerve involvement and muscular atrophy., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Glaucoma is a neurodegenerative disease, our study aimed to evaluate the potential effects of Palmitoylethanolamide (PEA) supplementation on RGCs function by PERG examination, and to record effects on intraocular pressure, visual field and quality of life. It was a single centre, randomized, prospective, single blind, two treatment, two period crossover study on stable glaucoma patients on topical monotherapy comparing current topical therapy alone or additioned with PEA 600 mg one tablet a day. At baseline, at 4 and at 8 months, all patients underwent to complete ophthalmic examination, pattern electroretinogram, visual field, and quality of life evaluation. 40 patients completed the study: mean age 66.6 ± 7.6 years; 21 (52.5%) male; 35 POAG (87.5%). At baseline, most patients had an early visual field defect, the IOP was well controlled. At the end of the PEA 600 mg supplementation, a significantly higher (mean 0.56 μV, 95% CI 0.30-0.73, p < 0.001) in the P50-wave amplitude was observed; in the PEA period a significantly lower IOP (- 1.6 mmHg, 95% CI - 2 to 1.2, p < 0.001) and higher quality of life scores (+ 6.7, 95% CI 4-9.9, p < 0.001) were observed. Our study is the first to show promising effects of PEA on PERG and on quality of life in glaucoma patients.

Purpose: To estimate the prevalence of dry eye among video-terminal (VDT) users and to assess risk factors for dry eye in this population., Study Design: A single-centre, cross-sectional study was carried out on subjects employed as VDT workers and on a control group., Methods: Demographic data, years spent working at a VDT, number of effective hours at VDT/day, number and hours of breaks/day were considered. All subjects underwent a complete ophthalmic examination and completed the Italian version of the computer vision symptom scale 17-item (CVSS17) questionnaire. Both groups were classified as definite, suspect and non-dry eye syndrome (DES)., Results: One-hundred and ninety four subjects completed the study; 70 (36.1%) of which represented the control group, and 124 (63.9%) represented the VDT group. Among VDT workers, 29 (23.4%) presented definite DES and 55 (44.4%) suspect DES, while among controls, only 2 (2.9%) presented definite DES and 37 (52.8%) suspect DES. In the univariate analysis, the DES group was older (p < 0.001), spent more time a day at VDT (p < 0.001), used VDT from more time (p < 0.001), instilled artificial tears (p = 0.031), and presented worst quality of life (p < 0.001). At the multivariate analysis, only age and time at VDT retained association with DES (OR 1.05; 95% CI 1.01-1.09; p = 0.01 and OR 1.57; 95% CI 1.07-2.02; p = 0.017, respectively)., Conclusions: The global increase of VDT workers is accompanied by a higher frequency of ocular complaints. Older subjects and people spending more than 4 h a day at VDT are at major risk to develop DES and should take precautions to prevent the onset of the disease.

The aim of this study was to evaluate the in vivo effects at 3 years of preservative-free tafluprost on corneal health. It was a prospective, masked, study on consecutive patients with a new prescription of preservative-free (PF) tafluprost (naïve-N or switched-S, 44 and 14 patients), and preserved (P) bimatoprost 0.003% or travoprost 0.004% (P-group, 35 patients). A complete ophthalmic examination and an in vivo corneal confocal microscopy evaluation were performed at baseline and every 6 months for 3 years. Ninety-three patients were enrolled, clinical parameters were similar in the groups at baseline, apart from intraocular pressure (IOP) which was lower in the S-group (p = 0.012). Both at baseline and over time, confocal microscopy parameters had different trends. At baseline, keratocyte activation was similar in the three groups (p = 0.43) but over the next months naïve patients treated with PF-tafluprost presented a significant (p = 0.004) reduction in keratocyte activation. Sub-basal nerves tended to increase in patients switched to PF-tafluprost (p = 0.07) while were stable in the other two groups (p = 0.11 in PF and 0.40 in P group). Grade of tortuosity was stable over time in the three groups. Beading-like formations were stable over time for the P- and the PF-group, while significantly increased in the S-group (p = 0.027). Endothelial density values were statistically different at baseline (p = 0.007), they decreased both in PF-group and in S-group (p = 0.048 and 0.001, respectively), while increased in P-group (p = 0.006). Our study is the first to show that a PF-tafluprost formulation does not significantly alter the corneal structures as examined by confocal microscopy after 36 months of topical daily therapy, while improving corneal alterations due to chronic preserved therapies.

Purpose: Joubert syndrome (JS) is an inherited autosomal recessive or X-lined disorder characterized by a congenital malformation of the mid-hindbrain and a large spectrum of clinical features. It is estimated that retinal dystrophy is present in association with the typical neurological findings in about one-third of the patients. The aim of this study is to better characterize the macular region in JS patients with and without retinal dystrophy., Methods: We describe six individuals affected by JS as demonstrated by the presence of the typical "molar tooth sign" on MRI. The presence of retinal dystrophy was assessed by fundus examination and electrophysiology by means of full-field electroretinogram (ERG) and visual evoked potentials (VEP) at five spatial frequencies (300-15 min of arc). The macular region was examined with spectral domain optical coherence tomography (SD-OCT). All the exams were performed in awake conditions. All the patients underwent next-generation-sequencing analysis of known JS genes., Results: Pathogenic biallelic variants in either the INPP5E gene or the AHI1 gene were detected in two pairs of siblings, all positive for retinal dystrophy. Genetic testing yielded no results in the remaining two patients, one with bilateral coloboma and retinal dystrophy and the other with normal fundus appearance. Decimal best-corrected visual acuity was between 0.1 and 1.0. In the two pairs of siblings, SD-OCT revealed a posterior staphyloma centred on the fovea, in one case associated with cystoid macular oedema. Macular morphology was just slightly altered in the fifth patient and completely normal in the last patient. Refractive error was between + 2.50 diopter sphere (DS) and - 8 DS and - 4 diopter cylinder ax 45°. ERG waves were markedly lower than the normal limits in both scotopic and photopic components in the two pairs of siblings and in the fifth subject, with VEP P100 latencies and amplitudes delayed and reduced in all spatial frequencies. ERG and VEP were within normal limits in the last patient., Conclusions: To our knowledge, macular staphyloma has not been described before in JS. Further work is warranted to assess the true prevalence of staphyloma in JS and its connection to retinal dystrophy.

Current ocular GvHD (oGvHD) treatments are suboptimal. We investigated the safety and efficacy of long-term continuous treatment with autologous platelet lysate (PL) drops in patients with oGvHD Dry Eye Syndrome (DES) score 2-3 refractory to topical conventional therapy. Ophthalmic evaluation was performed at 6 month intervals. Symptoms were assessed using the Glaucoma Symptom Scale (GSS). Patients were defined 'responders' when showing a reduction at least one grade on National Institutes of Health Eye Score from baseline at the 6 month visit. Thirty-one patients were included, and 16 (51%) completed 36 months of follow-up (range 6.5-72.7). At 6 months all patients were classified as responders: median GSS symptom score decreased from 70 to 41 (33 at 36 months), median GSS function score reduced from 68 to 46 (33 at 36 months) (all P<0.001). Median Tear Break Up Time improved from 3 to 6 s after 6 months and was maintained over time. All signs improved at 6 and 36 months (clinical and statistical significance). No severe adverse events occurred. Long-term treatment with PL drops is secure and effective for oGvHD and can be an efficient therapy option from initial stages of oGvHD to prevent permanent ocular impairment and improving quality of life.

Ocular GvHD affects about 40-60% of patients receiving bone marrow transplantation. Ocular complaints worsen quality of life (QoL), which, besides survival time, is a primary end point in a patient's follow-up. The aim of our study was to assess the ocular surface status and vision-related QoL (VRQoL) and explore the potential determinants in VRQoL in patients with chronic GvHD with ocular involvement. In this cross-sectional study, we investigated 40 patients with ocular GvHD after allogeneic hematopoietic stem cell transplantation assessing ocular symptoms and signs, VRQoL and ophthalmologic parameters. The median age was 52.1 years; 32.5% were females. Most of them presented a multiple organ involvement. Ophthalmological parameter examinations were on average abnormal. Corneal staining was severe/very severe in 25%; conjunctival staining in 10% of subjects. The worse QoL scores were on 'general vision', 'ocular pain', 'vision-specific mental health' and 'vision-specific role difficulties'. Both symptoms and sign scores indicate poor VRQoL. A lower VRQoL was related to schooling level, job position, underlying disease and extracorporeal photopheresis. Corneal staining, Schirmer and tear film breakup time were negatively associated to visual function-related subscales. An accurate ophthalmological and VRQoL assessment should be mandatory for a long time to promptly recognize early signs of ocular suffering, and to prevent irreversible ocular complications.

Background: To evaluate the safety and tolerability of Polyquad-preserved Travoprost (PQ-Travoprost) in patients previously treated with benzalkonium chloride (BAK)-preserved Latanoprost., Methods: Cohort 6-month study on open-angle glaucoma or ocular hypertension patients. Complete ophthalmic examination, intraocular pressure (IOP) measurement and ocular surface status (tear film break-up time [TF-BUT], corneal staining and ocular surface disease index [OSDI]) were evaluated at baseline and 6 months later., Results: A total of 44 patients were enrolled. Median (interquartile range [IQR]) baseline IOP was 18 (15.5 - 21) and 16 (14 - 17) mmHg (p < 0.0001) after 6 months. At baseline, 18 (40.9%) patients presented an IOP of < 18 mmHg, 11 (25%) < 16 mmHg, 2 (4.3%) < 14 mmHg and 1 (2.3%) < 12 mmHg; 6 months later the proportions were 36 (81.8%) (p < 0.0001), 21 (47.7%) (p = 0.00075), 8 (18.2%) (p = 0.0143) and 6 (13.6%) (p = 0.0253). Concerning safety, TF-BUT improved from 8 [IQR 6 - 10] to 10 [IQR 8 - 12] s (p < 0.0001). No eye developed corneal staining; punctate keratitis was absent in 13 (29.5%) patients at baseline and in 31 (70.4%) after 6 months (p < 0.001). OSDI changed from 16 (10 - 30) to 9 (2 - 20)., Conclusions: No patient treated with PQ-Travoprost developed ocular surface disease after 6 months of monotherapy, whereas many patients reached a good IOP control with lower IOP values. Ocular surface status statistically improved when examined by TF-BUT and corneal staining.

Purpose: Amniotic membrane (AM), or amnion, is a thin membrane on the inner side of the fetal placenta; it completely surrounds the embryo/fetus and delimits the amniotic cavity, which is filled by amniotic liquid. In recent years, the structure and function of the amnion have been investigated due to its pluripotent properties, which are an attractive source for tissue transplantation and reconstructive surgery. The pioneering use of AM in skin transplantation by Davis dates back to 1910; in 1913, Sabella and Stern employed it in the treatment of burns and superficial scars. Certain characteristics make the AM ideally suited to its application in ocular surface reconstruction. It can be easily obtained and its availability is nearly unlimited. We report a case of AM transplantation to treat ocular surface abnormality., Methods: A 28-year-old man came to our attention for persistent foreign body feeling and pain in his right eye. Because of progressive clinical worsening, we decided to perform surgical apposition of AM., Results: Clinical and instrumental follow-up was conducted with periodic complete checkups. At 1 year follow-up, best-corrected visual acuity was 4/10., Conclusions: Characteristics of AM make it potentially useful to treat ocular surface abnormalities.

Objective: To determine the efficacy and safety of azithromycin 1.5% eye drops in a paediatric population with purulent bacterial conjunctivitis., Patients and Methods: This was a multicentre, international, randomised, investigator-masked study in 286 children with purulent discharge and bulbar conjunctival injection. Patients received either azithromycin 1.5% eye drops (twice daily for 3 days) or tobramycin 0.3% eye drops (every 2 h for 2 days, then four times daily for 5 days). Clinical signs were evaluated on day (D) 0, 3 and 7, and cultures on D0 and D7. The primary variable was the clinical cure (absence of bulbar conjunctival injection and discharge) on D3 in the worse eye for patients with positive cultures on D0., Results: 286 patients (mean age 3.2 years; range 1 day-17 years) were included; 203 had positive cultures on D0. Azithromycin was superior to tobramycin in clinical cure rate on D3 (47.1% vs 28.7%, p=0.013) and was non-inferior to tobramycin on D7 (89.2% vs 78.2%, respectively). Azithromycin treatment eradicated causative pathogens, including resistant species, with a similar resolution rate to tobramycin (89.8% vs 87.2%, respectively). These results were confirmed in a subgroup of patients younger than 24 months old., Conclusions: Azithromycin 1.5% eye drops provided a more rapid clinical cure than tobramycin 0.3% eye drops in the treatment of purulent bacterial conjunctivitis in children, with a more convenient twice-a-day dosing regimen., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Purpose: Most studies on premature newborns have focused on infants of less than 28 weeks of gestational age (GA) due to their increased risk of developing diseases, such as premature retinopathy. Studies on premature infants born between 28 and 35 weeks GA with normal development are less frequent. The aim of our study was to identify subclinical morphologic or functional defects in these children., Methods: We evaluated 14 premature newborns at birth (mean gestational age, 33.45 weeks) with a neuro-ophthalmologic examination and patterned visual evoked potentials (pVEP). The same subjects were surveyed when they were young children (mean age, 7.5 ± 0.2 years) using Heidelberg retinal tomography (HRT) and optical coherence tomography (Stratus OCT). The pVEP studies were performed as transient (temporal frequency, 1.96 Hz) and steady-state (7.5-Hz temporal frequency). A complete ophthalmic examination also was performed. The data were compared to those from 15 term newborns who were examined in the same manner (mean age, 9.8 ± 0.3 years)., Results: A statistically significant thickening of the macular temporal and inferior nerve fibers was found on OCT in premature newborns. The thickness of the superior and inferior retinal nerve fiber layer (RFNL) also was reduced. A difference also was found in rim area thickness based on HRT. Multiple significant P values were found in the VEP P100 peak time and steady-state amplitudes at the time of birth, but not at the time of morphologic analysis., Conclusions: Healthy, premature newborns may have morphologic abnormalities of the optic nerve. These abnormalities do not cause visual acuity or functional decreases.

Purpose: To record the impact of preservative-free Tafluprost on corneal status examined by in vivo confocal microscopy., Methods: A prospective cohort study on consecutive naïve or previously treated patients with a new prescription of preservative-free Tafluprost. All subjects underwent a complete ophthalmic examination [comprehensive of intraocular pressure (IOP) and central corneal thickness (CCT) measurements], and an in vivo corneal confocal microscopy evaluation, at baseline and 12 months later. A healthy control group was selected and examined at the same time., Results: Seventy-five subjects (16 controls, 20 naïve, and 39 treated) were enrolled. At baseline, IOP was 16 (13.8-18.6), 21.5 (18-23.7), and 18 (16-22) mmHg, (P=0.01); and CCT did not differ among the groups (P=0.25). Epithelial cells, keratocyte activation, a number of sub-basal nerves, and the grade of nerve tortuosity were similar (P=0.233, 0.11, 0.417, and 0.05, respectively), in naïve and controls, while previously treated patients had significantly less epithelial cells and sub-basal corneal nerves (P<0.0001), keratocyte activation, increased number of bead-like formations, and nerve tortuosity (P<0.0001). At month 12, IOP decreased in both patient groups (P<0.001); CCT did not change. Previously treated patients showed an improvement in confocal parameters: increased epithelial cells (P=0.0006), reduced keratocyte activation (P=0.003), increased number of corneal nerves (P=0.0004), decreased number of bead-like formations (P=0.0013), and nerve tortuosity (P=0.0008). Naïve patients did not show significant changes., Conclusion: The study confirmed the efficacy of preservative-free Tafluprost in reducing IOP, and underlined the drug's safety in naïve glaucoma patients with regard to corneal status. In the balance between efficacy and tolerability, formulations with low cytotoxicity may ensure fewer side effects, with higher tolerability and better compliance.

Purpose: To evaluate accuracy and inter-rater reliability of RetCam fundus images and digital camera fluorangioscopic images in acute retinopathy of prematurity (ROP) by comparing diagnoses given by trainee ophthalmologists with those provided by expert ophthalmologists. 
, Methods: This is a multicenter retrospective observational study of diagnostic data from 48 eyes of 24 premature infants with classical ROP, stage II, as evaluated by RetCam 3 and fluorescein angiography (FA). Average gestational age was 25.4 weeks, average weight 804.7 g. A staging grid (with ocular fundus divided into 3 concentric zones) and 24 15° sectors centered around the optic papilla were superimposed on 360° retina photomontages (Photoshop) made from RetCam and FA images. Non expert vs expert diagnosis agreement was measured for each sector by means of Cohen kappa (Fleiss, 1981).
, Results: A high degree of concordance was found. Inter-rater agreement between expert and non expert interpretations of retinal photomontages was greater for fluorangiographic images than for RetCam images, with κ = 0.61-1 for 120/152 (78.9%) sectors examined on the RetCam images and 
κ = 0.61-1 for 168/198 (84.8%) sectors examined on the FA images.
, Conclusions: The FA images appear to be easier to interpret than RetCam images, both by expert and non expert ophthalmologists. The results confirm that FA is a good examination technique with a high degree of reliability, even where trainee practitioners are involved. This suggests that retinopathy management can be improved by entrusting diagnostic responsibilities to trainee ophthalmologists, in order to extend access to correct diagnosis, recognition of threshold lesions, and prompt treatment.

Purpose: To identify risk factors for developing ocular surface disease (OSD), to verify the prevalence of OSD, and to record efficacy of questionnaires in identifying symptoms' impact on patients' quality of life.
, Methods: . This was an observational, cross-sectional study of patients with topically treated glaucoma. Tear film break-up time (TFBUT) and punctate keratitis were evaluated; 2 quality-of-life questionnaires (National Eye Institute-Visual Function Questionnaire 25 and Glaucoma Symptom Scale) were submitted to all patients. Class of previous and current intraocular pressure (IOP)-lowering drugs, number of drugs, number of drops/day, and total and current benzalkonium chloride (BAK) exposure were collected.
, Results: . A total of 233 patients completed the study. TFBUT was abnormal in 71 (30.5%) eyes; punctate keratitis was present in 74 (31.7%). Keratitis was more frequent with increasing number of eyedrops (p=0.008) and number of instillations per day (p=0.009). Ocular surface disease was present in 97 (41.6%) patients and was statistically related to number of medications used (p=0.026). The univariate analysis pointed out that patients with OSD were older (p=0.04), had lower IOP values (p=0.03), were topically treated for more time (p<0.0001), had assumed more BAK (p<0.0001), and presented worst quality of life (p<0.01). The multivariate analysis found that OSD was related to number of medications used (p=0.002), prolonged use of preserved medications (p=0.005), and total BAK exposure (p<0.001).
, Conclusions: There is clinical evidence that the number of medications, their prolonged use, and the total BAK exposure are risk factors to develop OSD in patients with glaucoma. To prevent OSD onset, BAK exposure and the number of topical medications should be reduced.

Purpose: To record signs and symptoms of ocular surface disease (OSD) in patients treated with Intra Ocular Pressure (IOP)-lowering medications; to evaluate the relationship between signs and symptoms; and to identify how to diagnose and follow OSD and its impact on the quality of life in such patients., Methods: A prospective observational study of enrolled consecutive topically treated open-angle glaucoma or ocular hypertension patients: patients presenting systemic or ocular conditions that could interfere with ocular surface status were excluded. Enrolled patients underwent a complete ophthalmic examination comprehensive of evaluation of tear film break-up time (TF-BUT) and fluorescein corneal staining (keratitis punctatae) and who completed the Italian version of both the National Eye Institute-Visual Function Questionnaire (NEI-VFQ) 25 and the Glaucoma Symptom Scale (GSS) questionnaires., Results: 233 patients adhered to a study protocol. Punctatae keratitis was detected in 70 (30%) eyes; abnormal TF-BUT in 67 (28.8%) patients: 97 patients (42.1%) presented an OSD. The abnormal values were gender-independent, keratitis was statistically related to age (P=0.01) and number of instillations/die (P=0.0007). TF-BUT was related to the IOP value (P<0.0001). The NEI ocular pain subscale was statistically related to TF-BUT (P=0.017); GSS was both related to TF-BUT and punctatae keratitis (P<0.00001)., Conclusions: Many patients present an OSD related to therapy, and this affects their quality of life. The use of fixed combinations to reduce surface exposition and of benzalkonium chloride-free formulations should be encouraged to reduce and contain the onset or worsening of this secondary condition in glaucoma patients. The GSS has shown a good relation to signs and should be routinely used to evaluate the impact of OSD on the quality of life.

Purpose: To validate the Italian version of the Glaucoma Symptom Scale (GSS) Questionnaire and its symptoms and function subscales., Methods: This transversal validation study enrolled nonhospitalized patients with glaucoma, and a reference sample of patients without eye diseases. Eligible participants had to be cognitively able to respond to a health status interview. The Italian self-administered versions of the 25-item National Eye Institute-Visual Function Questionnaire and the GSS Questionnaire were administered to all participants. Reliability and validity of the Italian translation of the GSS Questionnaire were tested using standard statistical methods for questionnaire validation., Results: Ninety-seven patients were enrolled. Cronbach α coefficient ranged from 0.72 to 0.92 across subscales and eyes. Test-retest stability was >85% for each subscale and eye. The control group of participants had better scale scores across all dimensions of vision-targeted health-related quality of life captured by the GSS Questionnaire (P<0.05) and there were good correlations between responses GSS Questionnaire subscales and analogous domains of the 25-item National Eye Institute-Visual Function Questionnaire., Conclusions: The Italian version of the GSS Questionnaire has good validity, discriminatory power, internal consistence and reliability, showing psychometric properties comparable with those of the English version, and can therefore be used in clinical research as a specific measure of vision-related quality of life in Italian-speaking patients with ocular hypertension or glaucoma.

We compared the immunogenetic data from 2666 patients affected by HLA-related autoimmune diseases with those from 4389 ethnically matched controls (3157 cord blood donors CBD, 1232 adult bone marrow donors BMD), to verify the appropriateness of HLA typing requests received in the past decade. The frequency of HLA-B∗27 phenotype was 10.50% in 724 ankylosing spondylitis, 16.80% in 125 uveitis (3.41% BMD, 4.24% CBD, P < 0.0001); HLA-B∗51 allele was 15.57% in 212 Behçet's disease (12.91% BMD, 9.88% CBD, P < 0.0001); the HLA-DRB1-rheumatoid arthritis (RA) shared epitope was 13.72% in 554 RA (10.85% BMD, 13.48% CBD, P = 0.016); the carriers of almost one of HLA-DQB1 susceptibility alleles were 84.91% in 795 celiac disease (CD) and 59.37% in 256 insulin-dependent diabetes mellitus (IDDM) (46.06% in 875 CBD, 42.75% in 662 BMD P < 0.0001). Overall, our results show that the HLA marker frequencies were higher in patients than controls, but lower than expected from the literature data (excluding CD and IDDM) and demonstrate that, in complex immunogenetic conditions, a substantial number of genetic analyses are redundant and inappropriate, burdening to the public health costs. For this reason, we suggest the Italian Scientific Society of Immunogenetics to establish guidelines to improve the appropriateness of typing requests.

Aim: We set out to describe 17 patients with septo-optic dysplasia (SOD), focusing on the little-explored neurological, cognitive, and neuro-ophthalmological components. A further aim was to identify possible clinical correlations and phenotypic characteristics within the diagnostic spectrum., Method: We collected clinical-instrumental data (from the history, general and neurological examination, developmental assessment, and neuro-ophthalmological, neuroradiological, neurophysiological, and endocrinological evaluations) on nine males and eight females (mean age 34.4mo, SD 31.6; range 4mo-9y 6mo) diagnosed with SOD who were referred to our Centre of Child Neuro-ophthalmology between 1999 and 2010., Results: We observed a heterogeneous clinical spectrum characterized by nervous system, visual, and endocrine dysfunctions; optic nerve involvement was present in all 17 children, midline brain defects in 14, and cortical developmental malformations in seven. Developmental/cognitive delay and relational and communication difficulties were observed in eight and seven children, respectively, and reduced visual acuity and oculomotor dysfunction were observed in all. Pituitary hormone deficiencies were present in nine children., Interpretation: Nervous system involvement emerged as a key feature of SOD. As part of a holistic approach to the disease, particular attention should be paid to this aspect. The emergence of new clinical correlations and correlations between clinical features and three SOD subtypes opens the way for better clarification of this disease and, therefore, more targeted diagnosis, follow-up, and care of affected children., (© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.)

Purpose: To assess the sensitivity and specificity of Pentacam measurements in detection of occludable angles and to provide cutoff values., Methods: Observational, single-center, cross-sectional study on 64 Caucasian eyes: 28 (43.7%) primary narrow angles or primary angle-closure glaucoma, and 36 (56.2%) controls: all subjects were evaluated and classified by gonioscopy (Shaffer classification). The following measurements have been considered: superior and inferior anterior chamber angle (ACA), temporal and nasal ACA, anterior chamber depth (ACD) using 5 value representation (central, superior, inferior, nasal, temporal), and anterior chamber volume (ACV). Validity of Pentacam parameters to detect patients in Shaffer 0 or I class was assessed by receiver operating characteristic (ROC) curves analysis; cutoffs were chosen as to maximize sensitivity and specificity., Results: All the considered Pentacam measures were statistically different between the 2 groups (p<0.0001). All Shaffer grade groups differed in all parameters (p<0.001), except for grade 0 and I, which did not differ in any. Area under the curve ROC analysis revealed high discriminant power of all Pentacam measures: ACA = 0.94; ACD = 0.91; ACD central = 0.89; and ACV = 0.89. Chosen cutoff values (ACA = 22.4°; ACD = 1.12 mm; ACD central = 1.93 mm; ACV = 84 mm3) allowed correct classification of narrow angles., Conclusions: The study pointed out a high power of Pentacam AVA, ACV, and ACD in detecting occludable angles. Pentacam is simple to use, reliable, and noncontact, provides parameters in a short period, and represents a possible screening tool.

Aim: Cerebral visual impairment (CVI) is a disorder caused by damage to the retrogeniculate visual pathways. Cerebral palsy (CP) and CVI share a common origin: 60 to 70% of children with CP also have CVI. We set out to describe visual dysfunction in children with CP. A further aim was to establish whether different types of CP are associated with different patterns of visual involvement., Methods: A total of 129 patients (54 females, 75 males; mean age 4 y 6 mo, SD 3 y 5 mo; range 3 mo-15 y) with CP (51 with diplegia, 61 with tetraplegia, and 17 with hemiplegia; 62 [48%] of participants were able to walk) and CVI enrolled at the Centre of Child Neuro-ophthalmology (at the Department of Child Neurology and Psychiatry, IRCCS 'C. Mondino Institute of Neurology', University of Pavia) underwent an assessment protocol including neurological examination, developmental and/or cognitive assessment, neuro-ophthalmological evaluation including ophthalmological assessment, evaluation of visual acuity, contrast sensitivity, optokinetic nystagmus, visual field and stereopsis, and neuroradiological investigations., Results: Visual dysfunction in diplegia was characterized mainly by refractive errors (75% of patients), strabismus (90%), abnormal saccadic movements (86%), and reduced visual acuity (82%). The participants with hemiplegia showed strabismus (71%) and refractive errors (88%); oculomotor involvement was less frequent (59%). This group had the largest percentage of patients with altered visual field (64%). Children with tetraplegia showed a severe neuro-ophthalmological profile, characterized by ocular abnormalities (98%), oculomotor dysfunction (100%), and reduced visual acuity (98%)., Interpretation: Neuro-ophthalmological disorders are one of the main symptoms in CP. Each clinical type of CP is associated with a distinct neuro-ophthalmological profile. Early and careful neuro-ophthalmological assessment of children with CP is essential for an accurate diagnosis and for personalized rehabilitation., (© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.)

Objectives: The aim of this study was to evaluate the safety of preservative-free tafluprost in newly diagnosed patients and to confirm its efficacy in lowering intraocular pressure (IOP)., Methods: Naïve patients were submitted to an ophthalmic examination, including ocular surface status and quality of life evaluation. All examinations were performed at baseline and after 1 and 6 months., Results: 28 patients were enrolled and treated with tafluprost, once a day, in the evening. TF-BUT changed from 9 (interquartile range (IQR) 6 - 11) s at baseline to 10 (IQR 7 - 10) s at 1 month (p = 0.106) and 9 (IQR 6 - 12) s at 6 months (p = 0.003). No eye developed corneal staining. Quality of life was (median (IQR)) 91.6 (79.2 - 95.8) at baseline and 95.8 (66.7 - 100) at 6 months (p = 0.62). Only a few adverse events occurred during the follow-up period (three patients experienced ocular burning and one developed redness). The mean IOP reduction was 5.5 mm Hg (95% CI 3.8 - 7.2). The median (IQR) baseline IOP was 18.7 (15 - 23.7) mm Hg; 14 (13 - 16) mm Hg and 16 (14 - 16) mm Hg (p < 0.0001) after 1 and 6 months, respectively., Conclusion: No patient developed ocular surface disease and quality of life perception was preserved. Preservative-free tafluprost is therefore an effective drug that is safe for the ocular surface after 6 months of daily therapy.

Purpose: To assess ocular surface status and tolerability after switching glaucoma patients from dorzolamide/timolol to brinzolamide/timolol fixed combination (FC)., Methods: Six-month, multicenter, open-label, prospective study that switched 72 patients from dorzolamide/timolol to brinzolamide/timolol FC. Intraocular pressure (IOP), tear film break-up-time (TF-BUT), fluorescein staining and Glaucoma Symptom Scale (GSS) questionnaire were recorded at baseline and after 6 months., Results: Median interquartile range (IQR) IOP was 16 (IQR 15 - 18) mmHg at baseline and 16 (15 - 17) mmHg and 6 months. TF-BUT significantly improved (p < 0.0001); the regression analysis found a negative association between TF-BUT changes and age at baseline and at month 6 (r = -0.32; p = 0.0082 and r = -0.31; p = 0.0085). Patients with no corneal fluorescein staining statistically increased after substitution (p = 0.04). Quality of life - as examined by the GSS symptoms (SYMP) score - statistically improved (p < 0.0001), revealing an association between GSS SYMP score and age [coefficient -0.67, 95% confidence interval (CI) -1.13 to -0.21, p = 0.0005), superficial keratitis (coefficient -8.26, 95% CI -15.73 to -0.80, p = 0.031) and TF-BUT (coefficient 4.94, 95% CI 1.71 to 8.17, p = 0.003)., Conclusion: Brinzolamide/timolol FC is associated with reduced topical discomfort and improved signs of ocular surface disease. The good tolerability and comfort of this FC might contribute to good patient adherence.

Purpose: To assess the relation between visual field progression and adherence rate in patients with glaucoma using Travatan Dosing Aid® (TDA)., Methods: In this 36-month retrospective study, 35 patients with primary open-angle glaucoma on travoprost or travoprost/timolol fixed combination monotherapy were submitted to ophthalmic examination and to visual field (VF) test from 2007 to 2009. Adherence was recorded with TDA. The association between VF progression (from 2007 to the end of the follow-up period) and a number of predictors (adherence rates at 12 months) was tested by means of chi-square test (or Fisher exact test) or Mann-Whitney test as appropriate., Results: The mean (±SD) adherence rates were 71.9%±27.8% after 1 month of follow-up and 76.8%±20.9% at 12 months. A total of 25 (71.4%) patients with stable VF had a median adherence rate (IQR) of 85% (75%-97%); patients who worsened (n=10; 28.6%) recorded a median (IQR) adherence of 21% (9%-45%) (p<0.001). No association was found between VF progression and any of the other variables (age, sex, schooling, visual acuity, intraocular pressure (IOP) at baseline and over time, other ocular diseases, time since diagnosis and actual therapy, number of concomitant systemic therapies). Patients who were at least 90% adherent did not progress, while 43.5% of the patients with lower adherence worsened (p=0.01)., Conclusions: Our data suggest that adherence rate may play a role in glaucomatous damage and/or progression; the target IOP therefore should be adjusted by adherence rates. Monitoring tools, educational programs, use of videos, a better doctor-patient relationship, or other means to improve adherence are desirable and necessary to preserve visual function.

Purpose: To examine the impact of switching glaucoma patients from timolol 0.5% to brinzolamide 1%/timolol 0.5% fixed combination (Brinz/Tim FC) on quality of life and on ocular surface status; to assess efficacy after the switch., Methods: 6-month, multicenter, open-label, prospective, switch study in 119 early to moderate glaucoma patients. Intraocular pressure (IOP), tear film break-up time (TF-BUT), fluorescein staining and Glaucoma Symptom Scale (GSS) questionnaire were recorded at baseline and after 6 months., Results: Median (interquartile range) IOP significantly decreased from 20 to 16 mmHg, independent of sex and age. Most patients (95.8%) reached an IOP < 18 mmHg. TF-BUT improved, with a negative weak correlation to age at baseline and at 6 months. The percentage of patients with no fluorescein staining improved. The quality of life recorded by GSS also improved, being related both to age and corneal staining., Conclusion: Brinz/Tim FC is effective and well tolerated. In this study, patients switched to Brinz/Tim FC obtained further reduction in IOP with no effects on ocular surface status and improved quality of life perception: a better quality of life could determine a better adherence to prescribed therapy.