Objectives: To evaluate the changes in retinal function and neural conduction along the visual pathways after 12 months of treatment with Citicoline oral solution in patients with open-angle glaucoma (OAG). Methods: In this randomized, prospective, double-blind study, 29 OAG patients were enrolled. Fifteen patients (Citicoline Group, 15 eyes) received Citicoline oral solution (Neurotidine^®, 500 mg/day), and 14 patients (Placebo Group, 14 eyes) received placebo for 12 months. Visual field (VF), pattern electroretinogram (PERG), visual evoked potentials (VEP), and Retinocortical Time (RCT) were assessed at baseline and after 6 and 12 months. Brain Diffusion Tensor Imaging (DTI)-Magnetic Resonance Imaging (MRI) was performed at baseline and at 12 months. Results: PERG, VEP, and RCT baseline values were comparable between groups (p > 0.01) at baseline. After 12 months of Citicoline treatment, significant (p < 0.01) increases in PERG P50–N95 and VEP N75-P100 amplitudes, and significant shortening of PERG P50, VEP P100 implicit times and RCT were observed. VEP implicit times shortening significantly correlated with the changes in VF Mean Deviation, and RCT shortening was associated with changes in DTI-MRI metrics in the lateral geniculate nucleus and on optic radiations, without reaching the level of significance. No significant changes were found in the Placebo Group. Conclusions: In OAG, Citicoline oral solution enhances retinal function likely through neuromodulation processes and changes post-retinal visual pathway connectivity. This could explain the improvement of visual field defects.

Background: Retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) measurements can be influenced by many factors including the presence of concomitant retinal diseases. The aim of this study it to assess the impact of epiretinal membrane (ERM) on RNFL and GCL assessment using optical coherence tomography (OCT). Methods: GCL, peripapillary RNFL (pRNFL), and Bruch’s Membrane Opening Minimum Rim Width (BMO-MRW) thicknesses were analysed using an SD-OCT (Spectralis OCT) in eyes with idiopathic ERM and compared with a control group. Results: 161 eyes were included, 73 eyes in the control group and 88 eyes with idiopathic ERM. The pRNFL analysis revealed a statistically significant difference between the two groups in overall and temporal sector thicknesses. For GCL thickness report, the percentage of scans in which the GCL was erroneously segmented by automatic segmentation was assessed for each eye. A statistically significant difference was found in all sectors (p < 0.001), with the exception of external nasal sector. A statistically significant difference (p < 0.001) in the GCL total volume report was found in ERM group compared to the control group. For MRW at BMO analysis, there was no statistically significant difference in MRW thickness in any sector. Conclusion: In eyes with ERM, the GCL and pRNFL analysis seemed affected by the morphological retinal layers’ modification. MRW-BMO did not appear to be directly affected by the presence of ERM.

Objectives: This study aimed to study the inner retina functional and morphological impairment of retinal ganglion cells (RGCs) from specific macular rings and sectors to identify whether selective macular regions were more vulnerable than others within the 20 central degrees in patients with open-angle glaucoma (OAG). Methods: In total, 21 OAG patients [mean age 50.19 ± 7.86 years, Humphrey Field Analyzer (HFA) 24-2 mean deviation (MD) between −5.02 and −22.38 dB, HFA 10-2 MD between −3.07 and −17.38 dB], providing 21 eyes, were enrolled in this retrospective case–control study. And 20 age-similar healthy subjects, providing 20 eyes, served as controls. The multifocal photopic negative response (mfPhNR) response amplitude density (RAD) from concentric rings and macular sectors and ganglion cell layer thickness (GCL-T) assessed by Spectral Domain–Optical Coherence Tomography (SD-OCT) was measured. Mean RAD and GCL-T values were compared between OAG and control ones by ANOVA. In OAG eyes, the relationship between mfPhNR and SD-OCT data was examined by linear regression analysis, and Pearson’s correlation coefficients were computed. Results: In considering all rings and sectors, compared to the controls, the OAG group showed a significant (p < 0.01) reduction in mean mfPhNR RAD and in GCL-T values with the greatest reduction in the central area. In OAG eyes, a significant (p < 0.01) correlation between all mfPhNR RAD and GCL-T values, with significant (p < 0.01) correlation coefficients, were found. Conclusions: In OAG eyes, RGC dysfunction was detectable by abnormal mfPhNR responses in localized macular areas, mainly in the central one. Localized macular RGC dysfunction was linearly correlated with the GCL morphological changes.

O-mannosylation is a post-translational modification required for the proper function of various proteins and critical for development and growth. POMGNT1 encodes the enzyme O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, which catalyzes the second step in the synthesis of α-dystroglycan O-mannosyl glycans. Among POMGNT1-related α-dystroglycanopathies, muscle–eye–brain (MEB) disease presents with congenital muscular dystrophy, structural brain abnormalities, and retinal dystrophy. Defects in protein O-mannosylation due to biallelic loss-of-function POMGNT1 mutations produce disturbances in assembling and organizing the basal membrane in the neuroretinal system, involving both the central and peripheral nervous systems. In the retina, POMGNT1 is expressed in photoreceptors and is localized near the photoreceptor cilium basal body, a structure critical for protein transport. Recent studies have reported an isolated degenerative ocular phenotype without any involvement of muscular or neuronal tissues. Here, we report on a family with three siblings affected by an apparently isolated clinically variable retinal disease and sharing biallelic inactivating POMGNT1 variants. Notably, the rod-cone dystrophy phenotype in the three siblings varied significantly in onset, presentation, and severity. These findings provide further evidence of the clinical variability associated with defective POMGNT1 function.

Citation: Conforti C, Dell’Aquila C, Tognetto D, Zalaudek I, Di Meo N. Eyelid lentigo maligna treated with imiquimod 5%: should we fear of ocular side effects? Dermatol Pract Concept. 2023;13(1):e2023042. DOI: https://doi.org/10.5826/dpc.1301a42 Accepted: July 25, 2022; Published: January 2023 Copyright: ©2023 Conforti et al. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (BY-NC-4.0), https://creativecommons.org/licenses/by-nc/4.0/, which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original authors and source are credited. Funding: None. Competing interests: None. Authorship: All authors have contributed significantly to this publication. Corresponding author: Claudio Conforti, MD, Dermatology clinic, Maggiore Hospital of Trieste, Trieste, Italy. Phone +390403992056 E-mail: claudioconforti@yahoo.com This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Background: Considering the lack of studies regarding the localized evaluation of the macular inner retina in multiple sclerosis patients without optic neuritis (MSnoON eyes), we investigated the structure and function of retinal ganglion cells (RGCs) located in different macular areas. Methods: In 24 MSnoON patients (mean age: 45.22 ± 5.57 years; 14 females and 10 males; mean MS disease duration: 11.07 ± 5.88 years) and in 30 age-similar (mean age: 45.09 ± 5.08 years) control subjects, complete ophthalmological examination, optical coherence tomography (OCT) and multifocal photopic negative response (mfPhNR) were performed. The ganglion cell layer thickness (GCL+-T) via OCT and the response amplitude density (RAD) through mfPhNR were measured from localized macular regions, including rings and Early Treatment of Diabetic Retinopathy Study (ETDRS) sectors. Results: When comparing MSnoON data from all tested areas with respect to the controls, macular GCL+-T and mfPhNR RAD mean values were found to be significantly (ANOVA, p < 0.01) reduced. In the MSonON group, considering both rings and sectors, the GCL+-T values were significantly and linearly correlated (Pearson’s test, p < 0.01) to the mfPhNR RAD values. Conclusions: In MS, even in the absence of optic neuritis, potential primary morpho-functional involvement of the inner macular elements can occur. This impairment widely involves all macular areas and sectors.