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To study whether there is a correlation between the macular and optic nerve morphological condition and the retinal ganglion cells (RGCs) and visual pathways' function, and to investigate whether visual acuity (VA) changes might be related to the morpho-functional findings in chronic non-arteritic ischemic optic neuropathy (NAION).In this retrospective study, 22 patients (mean age 62.12 ± 6.87) with chronic unilateral NAION providing 22 affected and 22 fellow eyes without NAION (NAION-FE), and 20 (mean age 61.20 ± 7.32) healthy control subjects were studied by spectral domain optical coherence tomography (Sd-OCT) for investigating macular thickness (MT) and volume (MV) of the whole (WR), inner (IR) and outer retina (OR), and the peripapillary retinal nerve fiber layer thickness (RNFL-T) measured overall and for all quadrants. Also, simultaneous 60' and 15' pattern electroretinogram (PERG) and visual evoked potentials (VEP) and VA were assessed. Differences of MT and MV of WR, IR, OR, and RNFL-T overall and for all quadrants, PERG amplitude (A), VEP implicit time (IT), and A and VA values between NAION eyes and controls were assessed by one-way analysis of variance. Pearson's test was used for regression analysis. A p value 0.01 was considered as significant.In NAION eyes as compared to NAION-FE eyes and controls, significant (p 0.01) changes of MT, MV of WR and IR, RNFL-T, 60' and 15' PERG A, VEP IT and A, and VA were found. No significant (p 0.01) OR changes were observed between groups. In NAION eyes, significant (p 0.01) correlations between MV of WR and IR and 15' PERG A were found. Overall, RNFL-T values were significantly correlated (p 0.01) with those of 60' PERG A and VEP IT and A; temporal RNFL-T values were correlated (p 0.01) with 15' PERG A and VEP IT and A ones. Temporal RNFL-T, MV-IR, and 15' PERG A as well as VEP IT were significantly (p 0.01) correlated with VA. Significant (p 0.01) linear correlations between 60' and 15' PERG A findings and the corresponding values of 60' and 15' VEP A were also found.Our findings suggest that in chronic NAION, there is a morpho-functional impairment of the IR, with OR structural sparing. VA changes are related to the impaired morphology and function of IR, to the temporal RNFL-T reduction and to the dysfunction of both large and small axons forming the visual pathway.

Two-hundred and thirty-four Italian patients with a clinical diagnosis of macular, cone and cone-rod dystrophies (MD, CD, and CRD) were examined using next-generation sequencing (NGS) and gene sequencing panels targeting a specific set of genes, Sanger sequencing and—when necessary—multiplex ligation-dependent probe amplification (MLPA) to diagnose the molecular cause of the aforementioned diseases. When possible, segregation analysis was performed in order to confirm unsolved cases. Each patient’s retinal phenotypic characteristics were determined using focal and full-field ERGs, perimetry, spectral domain optical coherence tomography and fundus autofluorescence. We identified 236 potentially causative variants in 136 patients representing the 58.1% of the total cohort, 43 of which were unpublished. After stratifying the patients according to their clinical suspicion, the diagnostic yield was 62.5% and 53.8% for patients with MD and for those with CD/CRD, respectively. The mode of inheritance of all cases confirmed by genetic analysis was 70% autosomal recessive, 26% dominant, and 4% X-linked. The main cause (59%) of both MD and CD/CRD cases was the presence of variants in the ABCA4 gene, followed by variants in PRPH2 (9%) and BEST1 (6%). A careful morpho-functional evaluation of the phenotype, together with genetic counselling, resulted in an acceptable diagnostic yield in a large cohort of Italian patients. Our study emphasizes the role of targeted NGS to diagnose MDs, CDs, and CRDs, as well as the clinical usefulness of segregation analysis for patients with unsolved diagnosis.

To study the outer retina morpho-functional characteristics and the choriocapillaris (CC) features in type 1 diabetic (T1D) patients, with and without signs of diabetic retinopathy (NPDR and NoDR). Twenty-five NPDR and 18 NoDR eyes were imaged by Optical Coherence Tomography Angiography. Ellipsoid zone (EZ) “normalized” reflectivity and CC perfusion density parameters, as flow deficits number (FDn), flow deficit average area (FDa) and flow deficit percentage (FD%), were analysed. Multifocal electroretinogram (mfERG) response amplitude densities (RADs) were measured. Mean EZ “normalized” reflectivity, CC FDn and FD% values, were similar (p > 0.05) in both groups, FDa was significant greater (p > 0.05) in NPDR compared with NoDR eyes. MfERG-RADs were similar in both groups. NPDR eyes showed a significant (p

Introduction Our aim was to evaluate the effects of 36 months of treatment with citicoline and vitamin B12 eye drops on macular function in patients with type 1 diabetes (DM1) with mild signs of non-proliferative diabetic retinopathy (NPDR). Methods A prospective, randomized, interventional, monocentric, double-masked study was conducted. Twenty patients with DM1 were enrolled and randomly divided into two groups: the DC group (10 patients; mean age ± standard deviation 46.86 ± 8.78 years) in which one eye of each patient was treated with citicoline and vitamin B12 eye drops (OMK2®, Omikron Italia srl, Italy, one drop thrice daily) for a period of 36 months; the DP group (10 patients; mean age ± standard deviation 47.89 ± 7.74 years) in which one eye of each patient was treated with placebo (eye drops containing hypromellose 0.3%, one drop thrice daily) for a period of 36 months. A total of 18 eyes (10 from the DP and 8 from the DC group, respectively) completed the study. In both groups, multifocal electroretinogram (mfERG) recordings were assessed at baseline and after 36 months. In mfERG analysis, the N1–P1 response amplitude density (RAD) evaluated in the 0–2.5° (ring 1), in the 2.5–5° (ring 2), in the 5–10° (ring 3), and in the 0–10° (ring 1 + ring 2 + ring 3) were considered. Results With respect to baseline, after 36 months of follow-up, the mfERG RADs recorded in R1, R2, R3, and R1 + R2 + R3 were significantly increased (i.e., R1 + R2 + R3 RAD from 21.552 ± 2.522 nV/degree2 at baseline to 26.912 ± 2.850 nV/degree2 at 36 months) in DC eyes, whereas in DP eyes they were significantly reduced (i.e., R1 + R2 + R3 RAD from 21.033 ± 3.574 nV/degree2 at baseline to 16.151 ± 3.571 nV/degree2 at 36 months). Conclusions This study indicates that patients with NPDR treated with citicoline and vitamin B12 eye drops for a 36-month period achieved an improvement of the macular bioelectrical responses detectable by mfERG recordings. By contrast, during the same period of follow-up, patients with NPDR treated with placebo showed a worsening of the macular function.

To evaluate the retinal function and the relative neural conduction along the visual pathway after treatment with citicoline in liposomal formulation (CLF) eye drops in patients with open angle glaucoma (OAG). Twelve OAG patients (mean age ± standard deviation 52.58 ± 11.39 years, intraocular pressure

The aim of the present study was to evaluate the short-term effects of the vision trainer rehabilitation technique on retinal and post-retinal function in young amblyopic patients outside the critical visual developmental period. Twenty-one patients (mean age 12.2 ± 2.7 years, ranging from 9.1 to 18 years) affected by unilateral anisometropic amblyopia were studied, providing 21 amblyopic eyes (AE) and 21 sound eyes (SE). Thirty eyes from 15 age-similar normal subjects served as controls. All subjects underwent extensive ophthalmologic characterization to exclude any disease not related to amblyopia. All AE were subjected to rehabilitation sessions performed by the Retimax vision trainer (VT) program. The protocol consisted of 2 sessions per week, each lasting 10 min, for 10 consecutive weeks. Before and after the rehabilitation, electrophysiological [pattern electroretinogram (PERG) and visual evoked potential (VEP)] and psychophysical [best corrected visual acuity (BCVA) and microperimetry] data were collected from AE and SE. When comparing baseline data with those collected at the end of the study, PERG P50-N95 amplitude and BCVA values from AE had improved significantly by the end of the study (p

Right chorioretinitis and bilateral pseudopapilledema were firstly appreciated in a 9-month-old child with neonatal findings of aseptic chronic meningitis, framed in the context of CINCA syndrome at 1 year. Therapeutical response to various combinations of drugs was inconsistent until 7 years, when anakinra was started with immediate clinical and laboratory improvement. A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of 10 years, which remained stationary after 1 year of anakinra treatment.

Surgery for strabismus is in decline in countries like the United Kingdom. The aim of the present study was to determine whether this trend is also present in Italy and, also, to ascertain the number of squint operations performed in a six-year period. A retrospective review of all discharge summaries and procedures performed (diagnostic and therapeutic) for strabismus in Italian children aged 0-14 years old in the period 1999-2004 was undertaken. The total number of surgical procedures was 21,204. The number (per 10,000) was 4.24 in 1999, 4.33 in 2000, 4.31 in 2001, 4.25 in 2002, 4.23 in 2003, and 4.05 in 2004. The figure for 2004 was reduced by 4.48% with respect to 1999 and by 6.46% with respect to 2000. Temporal analysis revealed that the total number of single-muscle procedures remained stable for the first two years and then decreased in 2001 and 2002, and, above all, in 2003 and 2004. No significant change was noted in the number of procedures involving two or more muscles. It is also noteworthy that very few operations for strabismus were performed on children less than one year of age. The trend revealed by our data cannot be compared to the overall reduction in strabismus surgery that has been observed in England and Ontario, but there was a moderate decrease in the frequency of single-muscle surgical procedures among Italian children aged 0-14 years old in 2003 and 2004. Further investigation is needed to determine how this trend has evolved since 2004.

Purpose: To evaluate regional cone system function after uncomplicated retinal detachment (RD) surgery, by recording focal electroretinograms (FERGs) from the central and paracentral regions of the posterior pole. Methods: FERGs in response to either a central (eccentricity: 0–2.25 deg) or a paracentral annular (2.25–9 deg) uniform field, presented on a light adapting background and sinusoidally flickered at 41 Hz (95% modulation depth, 93 cd/m2 mean luminance) were recorded from 16 eyes (16 patients) 2 weeks to 420 months following uncomplicated RD surgery (encircling procedure with or without scleral buckling). Pre-operatively, 10 out of 16 eyes had a macular RD. Mean time elapsed from onset of symptoms to surgery was 20 days (range: 5–90 days). Post-operatively, visual acuity ranged 0.1 to 1.0. Eight age-matched normal subjects served as controls. Amplitude and phase of the FERG fundamental harmonic were measured. Results: Compared to control eyes, affected eyes’ central and paracentral FERGs were on average reduced in amplitude (by 40% and 28%, respectively, p