Retraction Note: Autoantibodies detection in patients affected by autoimmune retinopathies.

The article "Autoantibodies detection in patients affected by autoimmune retinopathies", by M.R. Ceccarini, M.C. Medori, K. Dhuli, S. Tezzele, G. Bonetti, C. Micheletti, P.E. Maltese, S. Cecchin, K. Donato, L. Colombo, L. Rossetti, G. Staurenghi, A.P. Salvetti, M. Oldani, L. Ziccardi, D. Marangoni, G. Iarossi, B. Falsini, G. Placidi, F. D'Esposito, F. Viola, M. Nassisi, G. Leone, L. Cimino, L. De Simone, V. Mastrofilippo, T. Beccari, M. Bertelli, published in Eur Rev Med Pharmacol Sci 2023; 27 (6 Suppl): 57-63-DOI: 10.26355/eurrev_202312_34690-PMID: 38112948 has been retracted by the Editor in Chief for the following reasons. Following some concerns raised on PubPeer, the Editor in Chief has started an investigation to assess the validity of the results. The outcome of the investigation revealed that the manuscript presented major flaws in the following: -       Issues with ethical approval -       Undeclared conflict of interest In light of concerns regarding the potential manipulation of Supplementary Figure 2, the journal's inquiry has been unable to conclusively determine whether the alterations noted on PubPeer constitute figure manipulation. The investigation yielded divergent evaluations. However, given the aforementioned concerns, the Editor in Chief doubts the integrity of the findings presented and thus, has opted to retract the article. The authors disagree with this retraction. This article has been retracted. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/34690.

Autoantibodies detection in patients affected by autoimmune retinopathies.

OBJECTIVE: Autoimmune retinopathies (ARs) encompass a spectrum of immune diseases that are characterized by the presence of autoantibodies against retinal proteins in the bloodstream. These autoantibodies (AAbs) lead to a progressive and sometimes rapid loss of vision. ARs commonly affect subjects over 50 years of age, but also rare cases of kids under 3 years of age have been reported. PATIENTS AND METHODS: In this study, 47 unrelated Caucasian patients were enrolled. All subjects showed negative cancer diagnoses and negative results in their genetic screenings. We studied 8 confirmed retinal antigens using Western blotting analysis, with α-enolase followed by carbonic anhydrase II being the two most frequently found in the patients' sera. RESULTS: Nineteen patients were positive (40.4%), thirteen uncertain (27.7%), and fifteen were negative (31.9%). Their gender did not correlate with the presence of AAbs (p=0.409). CONCLUSIONS: AAbs are responsible for retinal degeneration in some cases, while in others, they contribute to exacerbating the progression of the disease; however, their detection is crucial to reaching a better diagnosis and developing more effective treatments for these conditions. Moreover, finding good biomarkers is important not only for AR monitoring and prognosis, but also for helping with early cancer diagnosis.

Outer retina dysfunction and choriocapillaris impairment in type 1 diabetes.

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 < 0.05) linear correlation between RADs and both, CC FDa and FD%. The EZ "normalized" reflectivity was negatively correlated with CC FD% in NoDR eyes. In NPDR T1D eyes a significant relationship between abnormal outer retina functional responses and CC impairment was observed, while in NoDR eyes the photoreceptor reflectivity was correlated to CC abnormalities. The outer retina dysfunction in NPDR correlated to CC drop-out let hypothesize that the outer retinal elements are functionally impaired in proportion to the CC vascular supply deficit.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

PURPOSE: Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients. METHODS: First, family-based exome sequencing was performed, in one ABCC6-negative PXE patient with additional neurological features, and her relatives. CYP2U1, involved in hereditary spastic paraplegia type 56 (SPG56), was selected based on this complex phenotype, and the presence of two candidate variants. Second, CYP2U1 sequencing was performed in a retrospective series of 46 additional ABCC6-negative PXE probands. Third, six additional SPG56 patients were evaluated for PXE skin and eye phenotype. Additionally, plasma pyrophosphate dosage and functional analyses were performed in some of these patients. RESULTS: 6.4% of ABCC6-negative PXE patients (n = 3) harboured biallelic pathogenic variants in CYP2U1. PXE skin lesions with histological confirmation, eye lesions including maculopathy or angioid streaks, and various neurological symptoms were present. CYP2U1 missense variants were confirmed to impair protein function. Plasma pyrophosphate levels were normal. Two SPG56 patients (33%) presented some phenotypic overlap with PXE. CONCLUSION: CYP2U1 pathogenic variants are found in unsolved PXE patients with neurological findings, including spastic paraplegia, expanding the SPG56 phenotype and highlighting its overlap with PXE. The pathophysiology of ABCC6 and CYP2U1 should be explored to explain their respective role and potential interaction in ectopic mineralization.

Electrophysiological assessment of visual function in patients with non-arteritic ischaemic optic neuropathy.

BACKGROUND AND PURPOSE: Our study aims to evaluate retinal function and neural conduction in post-retinal visual pathways of patients with non-arteritic ischaemic optic neuropathy (NION). METHODS: Twenty patients (mean age: 63.7 +/- 5.96 year) with NION and 20 age-similar control subjects were enrolled. Simultaneous recording of pattern electroretinograms (PERGs) and visual evoked potentials (VEPs), and Log of minimum angle resolution (MAR) visual acuity (VA) were assessed in NION patients and controls. RESULTS: Significantly (ANOVA, P < 0.01) abnormal PERG and VEP responses, delayed retinocortical time (RCT, difference between VEP P100 and PERG P50 implicit times), and reduced VA were found in NION patients with respect to control subjects. The delay in RCT was not significantly (Pearson's test, P > 0.01) correlated with the PERG impairment. The reduction in VA was significantly (Pearson's test, P < 0.01) correlated to the increase in VEP P100 implicit time and RCT, whereas no correlations (P > 0.01) were found with PERG abnormalities. CONCLUSIONS: Non-arteritic ischaemic optic neuropathy patients with a reduction in VA may present two different, unrelated impairments: a dysfunction of the inner retinal layer (abnormal PERG) and abnormal post-retinal neural conduction (abnormal VEP and RCT). The reduction in VA seems to be related to the post-retinal impairment and seems to be independent from the retinal dysfunction.

Penetrating keratoplasty in a newborn: case report and analysis of current surgical trends in Italy.

PURPOSE: The aims of this study were to describe bilateral penetrating keratoplasty (PK) in a newborn and to analyze the data of PKs performed in Italy during the 5-year period 1999-2003 in children under 4 years of age. METHODS: A male newborn had PK at age 3 months and 5 months for near-blindness secondary to severe congenital corneal clouding in both eyes. The infant''s explanted corneas were subjected to histochemical and ultrastructural analyses. Data regarding the number of PKs performed in Italy on 0-4-year-olds were obtained from the Web site of the Italian Ministry of Health. RESULTS: The postoperative courses were uncomplicated, and 42 months of follow-up data show bilateral graft transparency and substantial improvement in visual acuity despite high-grade myopia and nystagmus. At the ultrastructural level, the main alterations involved the endothelial cells and Descemet membrane. A total of 45 PKs were performed in Italy on patients 0-4 years old from 1999 through 2003; only nine involved babies under 1 year of age. CONCLUSIONS: In babies with congenital corneal opacities, early PK can reduce severe amblyopia. However, the risk of intra- and postoperative complications in PK is high. Based on the 42-month follow-up, the anatomic and functional results achieved in the current patient are satisfactory despite the presence of nystagmus and postoperative high-grade myopia. This study shows that PKs are rarely performed, in Italy, in children aged 0-4 years, and very few are done during the first year of life.

Cytidine-5'-diphosphocholine (Citicoline): a pilot study in patients with non-arteritic ischaemic optic neuropathy.

BACKGROUND AND PURPOSE: Our work evaluates visual function before and after treatment with cytidine-5-diphosphocholine (Citicoline) in patients with non-arteritic ischaemic optic neuropathy (NION). METHODS: Twenty-six patients in which at least 6 months elapsed from NION, were randomly divided into two age-similar groups: 14 patients had Citicoline (Cebrolux-Tubilux, Italy, 1600 mg/diem for 60 days, followed by a 120-day period of wash out, days 60-180) (T-NION); 12 patients had no treatment during the same period (NT-NION). At day 180, in T-NION a second period of treatment (days 181-240) followed by a wash-out (days 241-360) was performed. Fourteen age-matched healthy subjects provided normative data. In all patients, pattern-electroretinogram (PERG), visual evoked potentials (VEPs) and visual acuity (VA) measurements were performed at baseline and at days 60 and 180. In T-NION, further measurements were achieved at days 240 and 360. RESULTS: At baseline, NT-NION and T-NION patients showed abnormal PERGs and VEPs, and reduced VA, compared to controls. At the end of treatment (days 60 and 240), T-NION patients showed improvement (P < 0.01) of PERGs, VEPs parameters and VA, compared to pre-treatment values. After wash out, functional improvements persisted compared to baseline. No changes in NT-NION patients were observed. CONCLUSIONS: Our results suggest a beneficial effect of oral Citicoline in NION.