Ocular Tics and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS).

Little is known about ocular tics in Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infections (PANDAS). In this retrospective study, we examined the clinical records of children with motor tics referred to the Ophthalmology Unit, Azienda Ospedaliero-Universitaria di Sassari, Italy, in 2010-2019. The presence of ocular tics was investigated. Data about antistreptolysin O (ASO) and anti-DNase B antibody titers, erythrocyte sedimentation rate (ESR), plasma C-reactive protein (CRP), and antibiotic use were recorded. Forty children (thirty-four boys and six girls; mean age: 7.65 ± 2.5 years) with motor tics were identified; thirty-three (82.5%) showed ocular tics. Children with ocular tics had significantly higher titers of anti-DNase B antibodies (p = 0.04) and CRP (p = 0.016) than those with extraocular tics. A diagnosis of PANDAS was made in 24 (60%) children. PANDAS children with oculomotor tics had significantly higher titers of anti-DNase B antibodies (p = 0.05) than those with extraocular tics. Oral antibiotics were given to 25/33 (76%) children with ocular tics and 21/24 (87.5%) with PANDAS. All treated patients showed marked improvement/complete resolution of symptoms. Results suggest that higher titers of anti-DNase B antibodies may be implicated in the pathogenesis of ocular tics in PANDAS. Oral antibiotics may be beneficial in improving ocular tics. Further research is necessary to confirm our findings.

AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.

PURPOSE: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of Dominant Optic Atrophy (DOA). We aimed at describing their neuro-ophthalmological phenotype as compared with classic OPA1-related DOA. DESIGN: Cross-sectional study. METHODS: The following neuro-ophthalmological parameters were collected: logMAR visual acuity (VA), color vision, mean deviation and foveal threshold at visual fields, average and sectorial retinal nerve fiber layer (RNFL), and ganglion cell layer (GCL) thickness on optical coherence tomography. ACO2 and AFG3L2 patients were compared with an age- and sex-matched group of OPA1 patients with a 1:2 ratio. All eyes were analyzed using a clustered Wilcoxon rank sum test with the Rosner-Glynn-Lee method. RESULTS: A total of 44 eyes from 23 ACO2 patients and 26 eyes from 13 AFG3L2 patients were compared with 143 eyes from 72 OPA1 patients. All cases presented with bilateral temporal-predominant optic atrophy with various degree of visual impairment. Comparison between AFG3L2 and OPA1 failed to reveal any significant difference. ACO2 patients compared to both AFG3L2 and OPA1 presented overall higher values of nasal RNFL thickness (P = .029, P = .023), average thickness (P = .012, P = .0007), and sectorial GCL thickness. These results were confirmed also comparing separately affected and subclinical patients. CONCLUSIONS: Clinically, DOA remains a fairly homogeneous entity despite the growing genetic heterogeneity. ACO2 seems to be associated with an overall better preservation of retinal ganglion cells, probably depending on the different pathogenic mechanism involving mtDNA maintenance, as opposed to AFG3L2, which is involved in OPA1 processing and is virtually indistinguishable from classic OPA1-DOA.

Sensitivity to basic emotional expressions and the emotion perception space in the absence of facial mimicry: The case of individuals with congenital facial palsy.

According to sensorimotor simulation models, recognition of another person's emotion is achieved by recreating the motor production of the perceived facial expression in oneself. Therefore, congenital difficulties in the production of facial expressions may affect emotion processing. The present study assessed a sample (N = 11) of Moebius syndrome (MBS) patients and a matched control group (N = 33), using a highly sensitive emotion recognition task. Leveraging the uniqueness of MBS, which is characterized by congenital facial paralysis, the role of facial mimicry and sensorimotor simulation in creating precise embodied concepts of emotion categories was investigated. Particularly, the research focused on how MBS patients (both as a group and individually, compared to controls) perceived the intensity of primary emotions and how well they discriminated between these and secondary (i.e., blended) emotions. The results showed that MBS patients registered significantly lower intensities for sadness, fear, anger, and disgust. Furthermore, these emotions appeared closely clustered-and therefore confused with anger and surprise-in the multidimensional scaling map, which was used to qualitatively analyze the emotion perception space. Further analysis of each MBS participant showed a stronger tendency in most patients to perceive primary emotions as less intense, relative to controls. Thus, the findings provide evidence for a residual deficit in emotion processing in adults with MBS. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Blepharospasm as a tardive manifestation of COVID-19 disease: A case report.

We report three cases of blepharospasms developed after a symptomatic COVID-19 infection, in order to describe a possible association between COVID-19 infection and essential blepharospasm. Blepharospasm could represent a late sign of COVID-19 infection (more than four weeks after the contagion) and may be triggered by the neurotropism of the coronavirus.

Acuity and Quality of Vision in Eyes with Epithelial Basement Membrane Dystrophy after Regular Pseudophakia.

PURPOSE: This retrospective case-control study was conducted to quantitatively and qualitatively assess the visual impairment in eyes with Epithelial Basement Membrane Dystrophy (EBMD) after regular cataract surgery. METHODS: EBMD pseudophakic eyes were compared with matched pseudophakic eyes free from surface disorders. At least 3 weeks after surgery we evaluated uncorrected and best-corrected distance visual acuity (UDVA and CDVA), objective aberrometry, Point Spread Function (PSF), Modulation Transfer Function (MTF), and patient complaints. RESULTS: Twenty-five EBMD eyes and 25 control eyes (13 patients per group) were included. Nine patients per group had a monofocal IOL, and four patients had a trifocal IOL. All the EBMD patients complained of postoperative blurred vision with ocular discomfort; intensive use of lubricants induced subjective improvement only in eyes with monofocal IOLs. Postoperative mean UDVA was 0.19 ± 0.16 LogMAR in the EBMD eyes and 0.11 ± 0.04 LogMAR in the control group (p = 0.016). Mean CDVA was 0.18 ± 0.15 LogMAR in the EBMD eyes and 0.06 ± 0.04 LogMAR in the control eyes (p = 0.001). The PSF curve width was significantly worse in the EBMD group (p < 0.001). The MTF cut-off value was lower in the EBMD group than in the control group (p < 0.001). CONCLUSION: After cataract removal, eyes with EBMD had significantly lower UDVA and CDVA than controls. All the aberrometric parameters were significantly worse in EBMD cases. EBMD patients complained about their postoperative visual outcome, while control patients did not.

Atypical presentation of juvenile multiple sclerosis in a patient with COVID-19.

PURPOSE: To report our experience with a case of a very atypical clinical onset of multiple sclerosis in a young boy during a COVID-19 infection. CASE REPORT: A 16-year-old boy was referred to our ophthalmology clinic with a complete isolated bilateral horizontal gaze palsy. The condition had onset suddenly 2 weeks prior and he had no associated symptoms, as well as no significant medical history. His corrected visual acuity was 0.0 logMAR in both eyes. While hospitalized, he was found infected with COVID-19. Subsequent brain MRI showed multiple lesions typical of a yet undiagnosed MS, as well as an active pontine plaque which was highly probable the cause of the horizontal gaze palsy. High-dose steroid treatment was initiated 1 week later, after the patient exhibited negative COVID-19 test results. CONCLUSION: Clinical manifestations of MS are rarely seen in male teenagers and only a few cases of isolated bilateral horizontal gaze palsy have been reported as the initial manifestation, but never during concomitant COVID-19 infection. We presume that the presence of COVID-19 may have been a neuroinflammatory trigger of underlying MS.

One-dioptre toric IOL versus spherical IOL in eyes with low preoperative corneal astigmatism.

PURPOSE: To investigate the advantages/disadvantages of a 1.0 D toric IOL vs spherical IOL after regular phacoemulsification in eyes with preoperative astigmatism ≤ 1 D. METHODS: Retrospective comparative series involving pseudophakic eyes with preoperative topographic astigmatism ≤ 1.0 D implanted either with monofocal 1.0 D Toric IOL (T-group), or with spherical IOL (S-group). The postoperative refractive astigmatism (PRA, i.e. surgically induced + corneal) was the main outcome; also considered in the analyses were the uncorrected and best-corrected distance visual acuity (VA). The data were referred to the last postoperative follow-up visit, 2 to 4 months after surgery. RESULTS: A total of 60 eyes were included: 30 in the T-group and 30 in the S-group, matched for patient's age, laterality, and axial length. Before surgery, the mean corneal astigmatism was 0.62 ± 0.39 D in the T-group and 0.54 ± 0.33 D in the S-group (p = 0.4). In the S-group, PRA was 0.73 ± 0.37 D, higher than the corresponding preoperative corneal astigmatism (p = 0.040). In the T-group, PRA was 0.58 ± 0.31 D; the variation was not statistically significant. Uncorrected VA was significantly better in the T-group vs the S-group (p = 0.007), and the best-corrected VA was comparable in the two groups. CONCLUSION: The present study indicated that in eyes with very low preoperative astigmatism, 1.0 D toric IOLs were able to limit the increase of the PRA instead of those observed with the spherical IOLs. This could support the better uncorrected VA recorded in the T-group.

X-linked retinoschisis: OCT-angiography in two brothers from a four-generation family with a p.Arg197Cys pathogenic variant in the RS1 gene.

INTRODUCTION: X-linked juvenile retinoschisis (XLRS) is a rare genetic disease causing retinal splitting. The aim of this work is to describe the optical coherence tomography angiography (OCTA) features in two brothers affected by an hemizygous c.589C>T (p.Arg197Cys) pathogenic variant in exon 6 of the RS1 gene. CASE DECRIPTION: Each patient underwent a complete ophthalmological examination, including measurement of best corrected visual acuity, slit-lamp biomicroscopy, fundus color photographs, fundus autofluorescence and infrared imaging, fluorescein angiography, spectral-domain optical coherence tomography (SD-OCT) and optical coherence tomography angiography (OCTA). En Face SD-OCT and OCTA revealed the presence of two different pattern of cystic lesions, fusiform and oval, disposed on a petaloid or irregular manner in the perifoveolar area. A widening of the foveal avascular zone with interruption of the vascular arcades was clearly evident. Furthermore, a capillary drop-out was observed in the superficial plexus of the central retina, other than capillary ectasia in the deep capillary plexus. Straight gray lines were visible among the cysts. CONCLUSIONS: OCTA data herein described allow a detailed morphological evaluation of XLRS other than a quantitative assessment of retinal capillary flow in this disease. The retinal alterations that we have reported may be helpful to better understand this rare condition with OCTA being a sensitive technique to monitor the evolution of the disease and the response to potential future therapeutic approaches aimed to restore vision.

Cataract progression following lens-sparing pars plana vitrectomy for rhegmatogenous retinal detachment.

Lens-sparing pars plana vitrectomy (PPV) is often followed by cataract development. However, there have been few prospective studies evaluating the timing of cataract progression and potential associated factors. This was an observational study conducted at the Ophthalmology Unit of the University Hospital of Parma (Parma, Italy). Patients presenting with rhegmatogenous retinal detachment (RRD), who underwent PPV with preservation of the lens, were examined according to a scheduled follow-up (3, 6 and 12 months after PPV) and then preoperatively when cataract extraction surgery (CES) was indicated, or at the end of the study follow-up period (May 2021). The primary outcome was the interval between PPV and CES indication (based on predefined refractive criteria). A total of 36 eyes of 36 patients (mean age: 52 ± 10 years) were included in the study. Nineteen eyes (53%) were indicated for CES a median of 14.5 months (IQR: 12.0-24.8) after PPV. The nuclear and posterior subcapsular forms of cataract progressed significantly starting at 6 months after PPV. Older age at the time of PPV, silicone oil tamponade and RRD without macular involvement were significantly and independently associated with an earlier indication for CES. Patient age and the use of silicone oil tamponade must be taken into consideration when evaluating the risk of cataract development after PPV.

Compass Fundus-Guided Perimetry in Geographic Atrophy.

Purpose: To evaluate compass (CMP), a recently introduced device that combines scanning ophthalmoscopy, automated perimetry, and eye tracking, for fundus-guided perimetry (microperimetry) with the purpose of correlating perimetric retinal sensitivity (PRS) and retinal geographic atrophy (GA) features. Materials and Methods: A retrospective, cross-sectional study was performed in 56 eyes of 43 patients affected by GA. All patients underwent compass 10-2 perimetry, consisting of a full-threshold visual field on fundus photography and an infrared (IR) image of the central 30° of the retina. Data were exported to an Excel sheet. Binarization with black/white (B/W) variables was applied on the compass photo fundus and matched with visual field scores. Patients underwent autofluorescence (AF) and IR images (Heidelberg, Germany): CMP and Heidelberg IR images were homologated by using GIMP software (https://www.gimp.org), and then atrophic areas were manually measured with the ImageJ program. CMP perimetric grid was overlapped with AF and IR pictures by using GIMP, obtaining composite TIFF images, which were then analyzed with the ImageJ greyscale score (GSS) tool. A hyperautofluorescent halo was identified on the GA edges of some patients. Pearson's correlation between GA size on IR compass and IR Heidelberg and between GSS and PRS values has been calculated; the independent t-test was realized to calculate the correlation between GSS and B/W variables identified on the CMP photo fundus. The Spearman correlation between total deviation and pattern deviation was calculated. Results: The AUC-ROC score between CMP scores and B/W variables was 93,4%. The Spearman correlation between total deviation and pattern deviation was highly significant (p = 0,00). The correlation between AF GSS values and PRS was significant (p value = 0,00), the correlation between GSS of hyperautofluorescent points and PRS was significant (p value = 0,00), and the correlation between IR GSS and PRS was significant (p value = 0,00). The correlation between AF GSS and B/W variables was significant (p value = 0,002), the correlation between hyperautofluorescent points and B/W was not significant (p value = 0,40), and the correlation between IR GSS and B/W was significant (p = 0,00). Conclusions: Based on our preliminary results, compass seems to be a reliable, quick, and safe device for the anatomical and functional study of GA. The direct visualization of the visual field on the fundus photography as a background allows a precise assessment and clinical monitoring of this disease.

Longitudinal Study of Optic Disk Perfusion and Retinal Structure in Leber's Hereditary Optic Neuropathy.

Purpose: The purpose of this study was to evaluate optic disk perfusion and neural retinal structure in patients with subacute Leber's hereditary optic neuropathy (LHON) and LHON carriers, as compared with healthy controls. Methods: This study included 8 patients with LHON in the subacute stage, 10 asymptomatic carriers of a LHON-associated mitochondrial DNA mutation, and 40 controls. All subjects underwent measurement of the retinal nerve fiber layer (RNFL) thickness, the ganglion cell-inner plexiform layer (GCIPL) thickness using optical coherence tomography and optic disk microvascular perfusion (Mean Tissue [MT]) using laser speckle flowgraphy (LSFG). Patients were re-examined after a median interval of 3 months from the baseline visit. Results: LHON carriers had higher values of RNFL thickness, GCIPL thickness, and disk area than controls (P < 0.05), whereas MT was not different between the two groups (P = 0.936). Median MT and RNFL thickness were 32% and 15% higher in the early subacute stage of the disease than in controls (P < 0.001 and P = 0.001). MT declined below the values of controls during the late subacute stage (P = 0.024), whereas RNFL thickness declined later during the dynamic stage (P < 0.001). GCIPL thickness was lower in patients with LHON than in controls independently of the stage of the disease (P < 0.001). Conclusions: The high blood flow at the optic disk during the early subacute stage may be the consequence of vasodilation due to nitric oxide release as compensation to mitochondrial impairment. Optic disk perfusion as measured by LSFG is a promising biomarker for LHON diagnosis and monitoring as well as an objective outcome measure for assessing response to therapies.

Short-term changes in retinal and choroidal relative flow volume after anti-VEGF treatment for neovascular age-related macular degeneration.

The effects of anti-vascular endothelial growth factor (anti-VEGF) agents on the native ocular vasculature are poorly understood. This pilot study aimed to assess short-term changes in retinal and choroidal perfusion after anti-VEGF treatment for neovascular exudative age-related macular degeneration (nAMD) using the relative flow volume (RFV) parameter derived from laser speckle flowgraphy. Ten treatment-naïve nAMD patients underwent measurements of mean, maximum, minimum, and differential RFV within a retinal arteriolar segment and a choroidal vessel segment outside the neovascular area. Measurement of retinal RFV (rRFV), choroidal RFV (cRFV), and subfoveal choroidal thickness (SCT) was repeated 9 and 35 days after a single anti-VEGF injection. The treatment caused a statistically significant decrease in the mean rRFV, mean cRFV, and SCT during the follow-up (p < 0.05). At the intermediate visit, the mean cRFV and SCT were - 17.6% and - 6.4% compared to baseline, respectively. However, at the final measurement, the mean cRFV was not different from the baseline value, which indicated waning of the anti-VEGF effect. In conclusion, a single anti-VEGF injection in treatment-naïve nAMD resulted in a decrease in retinal arteriolar and choroidal perfusion, according to the RFV parameter, which is a promising tool to simultaneously assess retinal and choroidal perfusion changes in response to anti-VEGF therapy.

Parsplana vitrectomy alone versus parsplana vitrectomy combined with phacoemulsification for the treatment of rhegmatogenous retinal detachment: a randomized study.

BACKGROUND: To compare parsplana vitrectomy (PPV) with and without phacoemulsification to treat rhegmatogenous retinal detachment (RRD). METHODS: Subjects aged 48-65 years with RRD in a phakic eye due to superior retinal tears with an overall extension of retinal breaks < 90° underwent to PPV alone (group A); or PPV plus phacoemulsification (phacovitrectomy, PCV, group B). Post-operative follow-up visits occurred at 1 week, 1 month (m1), 3 months (m3), and 6 months (m6) after surgery. The main outcome was the rate of retinal reattachment. Secondary outcomes included best-corrected visual acuity (BCVA), intraocular pressure (IOP), central macular thickness (CMT), and cataract progression (in the lens-sparing [PPV-alone] group). RESULTS: In this initial phase of the study a total of 59 patients (mean age: 55 years, 59 eyes) were enrolled: 29 eyes in group A and 30 eyes in group B. Both groups had similar gas tamponade. During the follow-up there were three cases of RRD recurrence in group A and one in group B. The relative risk of recurrence in group A was 3.22 times higher but the difference was not significant (p = 0.3). The two groups were also similar in terms of BCVA and IOP variation. At m3, CMT was significantly higher in group B (p = 0.014). In group A, cataract progression was significant at m6 (p = 0.003). CONCLUSIONS: In a cohort of RRD patients selected according to their preoperative clinical characteristics, PPV was comparable to PCV in terms of the rate of retinal reattachment after 6 months. TRIAL REGISTRATION: ISRCTN15940019 . Date registered: 15/01/2021 (retrospectively registered).

The epidemiology of Moebius syndrome in Italy.

BACKGROUND: The epidemiology of Moebius syndrome (MBS) is difficult to assess. In the present study, we investigated the epidemiology of MBS in a well-defined population within a precise geographical area. MATERIALS AND METHODS: Our university hospital is the only national referral center for the diagnosis and treatment of MBS. Participants in this cross-sectional study were patients affected by MBS who had been periodically followed by our medical staff since 1998. Most of the patients were referred to our hospital by the Italian Association of Moebius Syndrome (AISMO). Demographic data necessary for study purposes were made available in the AISMO database, updated to April 2018. Subjects were assigned to geographical macroareas that are conventionally used in surveys and epidemiological investigations by the Italian National Institute of Statistics. The rates and prevalence of MBS cases were calculated on the basis of the last available survey of the Italian population. Each study parameter was then calculated with reference to the whole country and macroarea partition. The sex rate and the corresponding prevalence were calculated with respect to the weighted whole population and to the respective sex population. Chi-square analysis was adopted to investigate possible differences among geographical regions and/or sexes. A p value < 0.05 was considered statistically significant. RESULTS: One hundred and sixty-four out of 212 MBS patients fulfilled our inclusion criteria. All cases occurred in Caucasian patients and were sporadic. The median age at diagnosis was 3.6 years, ranging from 0 to 55 years; this range was significantly reduced to 0-5 years (median age at diagnosis: 2.2 years) in patients included after 2007. The calculated prevalence at birth was 0.06 cases per 10,000 live births, with an overall prevalence of 0.27/100,000, without any sex or geographical predominance. CONCLUSIONS: The prevalence of MBS observed herein, rounded for possible underestimation, was 0.3/100,000 people, without any regional difference in the distribution of cases. Our data confirm the rarity of the disease on a national level.

Assessment of Choroidal Neovascularization Perfusion: A Pilot Study With Laser Speckle Flowgraphy.

Purpose: The purpose of this study was to quantify perfusion in the area of choroidal neovascularization (CNV) using laser speckle flowgraphy (LSFG) before and after intravitreal anti-vascular endothelial growth factor (VEGF) injection. Methods: Retrospective case series. Fifteen eyes of 15 patients with treatment-naïve CNV due to age-related macular degeneration (AMD) and with available LSFG images were included. The main outcome was the mean blur rate (MBR) quantified as a measure of perfusion within the CNV area observed on indocyanine green angiography. Twelve patients had available longitudinal data until one month after the injection, used to evaluate changes in perfusion, central macular thickness (CMT), visual acuity, and ocular perfusion pressure. Reproducibility of LSFG measurements was investigated at each time point from two images taken within five minutes. Results: Intraclass correlation coefficients for LSFG measurements were higher than 0.8 indicating excellent reproducibility. There was a significant decrease in perfusion after one week (-26.4 ± 14.4%; P = 0.027), whereas, after one month, perfusion was no longer significantly different from baseline (P = 0.121). CMT showed a progressive decrease over the follow-up period. Changes in perfusion were strongly correlated with changes in CMT after one week, but not thereafter. Conclusions: This pilot study suggests a method to select a region in the CNV area to quantify perfusion using LSFG. MBR could represent a parameter possibly related to regrowth of the CNV after anti-VEGF treatment. Large-scale studies are needed to assess the usefulness of LSFG in defining re-treatment criteria for neovascular AMD. Translational Relevance: LSFG technology to quantify perfusion could provide useful biomarkers for therapeutic management of CNV.

Optical coherence tomography angiography in multiple sclerosis: A cross-sectional study.

OBJECTIVES: To evaluate retinal axonal density and retinal capillary flow density (CFD) variations in patients affected by multiple sclerosis (MS) as documented by Optical Coherence Tomography Angiography (OCT-A). MATERIAL AND METHODS: A cross-sectional study was performed in a tertiary university eye hospital on 94 eyes from 48 MS patients compared to 37 eyes from 23 matched controls. MS patients were divided in two groups: those with previous episodes of optic neuritis (MS ON+, 71.4%) and those without any previous visual complaint (no optic neuritis group, MS ON, 28.6%). Patients underwent macular and optic nerve head OCT-A with Optovue XR Avanti (Optovue, Freemont, California) after that preliminary evaluation of the ganglion cell complex (GCC) and of the retinal nerve fiber layer (RNFL) was achieved for each single eye by SD-OCT. CFD was evaluated in three different retinal layers of MS patients and controls: superficial capillary plexus (SCP), deep capillary plexus (DCP) and the choriocapillaris layer (CL). Each layer was analyzed in 18 preset subregions automatically detected by the system. CFD values were then correlated to the RNFL thickness and GCC thickness in the groups: p values were computed by t-tests between each group of MS patients and controls. A p-value of <0.05 was considered significant. RESULTS: A significant difference in the overall CFD values was found between ON+ and ON- patients when compared to controls in 18 subregions of SCP. Furthermore, a significant difference was found between MS patients and controls in 16 subregions analyzed corresponding to the CL layer without difference between the two MS subgroups (ON+ and ON-). CONCLUSIONS: OCT-A when performed at the optic nerve head level and at the macular region is characterized by a reduction of retinal perfusion in a significant portion of MS patients independently if they had a previous history of optic nerve inflammation or not.