Explore the vast range of titles available.

Purpose The aim of this case control study was to evaluate the prognostic value of automatically quantified retinal vessel tortuosity from fundus images and vessel density from OCT-A in Fabry disease and to evaluate the correlation of these with systemic disease parameters. Methods Automatically quantified perimacular retinal vessel tortuosity (MONA REVA software), acquired by fundus imaging, and perifoveal retinal vessel density, acquired by optic coherence tomography angiography (OCT-A) were compared between 26 FD patients and 26 controls. Gender and FD phenotype were analyzed to the obtained retinovascular data and correlated to the Mainz severity score index (MSSI) and plasma lyso-Gb3. Results Automatically quantified retinal vessel tortuosity indices of FD patients were significantly lower, reflecting an increased vessel tortuosity, compared to controls ( p  = 0.008). Males with a classical phenotype showed significantly lower retinal vessel tortuosity indices compared to males with an oligosymptomatic phenotype and females with a classical or oligosymptomatic phenotype ( p  < 0.001). The retinal vessel tortuosity index correlated significantly with systemic disease severity parameters [global MSSI (r = − 0.5; p  < 0.01), cardiovascular MSSI (r = − 0.5; p  < 0.01), lyso-Gb3 (r = − 0.6; p  < 0.01)]. Conclusion We advocate fundus imaging based automatically quantified retinal vessel tortuosity index over OCT-A imaging as it is a quick, non-invasive, easily assessable, objective and reproducible marker.

Postoperative endophthalmitis remains a vision-threatening complication despite advances in treatment. Current prognostic markers (Gram stain and initial visual acuity) have limited predictive values for real-time retinal neuronal function assessment and visual recovery. The purpose of this pilot study was to explore whether photopic electroretinograms might be used to forecast the endophthalmitis prognosis following intravitreal injection or phacoemulsification intraocular lens implantation. This prospective observational study included 11 consecutive patients with acute postoperative endophthalmitis following phacoemulsification with IOL implantation (3 eyes) or intravitreal injections (8 eyes). ERGs were recorded using a portable RETeval™ system under nonmydriatic conditions. R Core Team (2019) was used to assess the preoperative electroretinogram outcomes, duration until the onset of endophthalmitis, procedure types of original surgeries, and pre- and postoperative best-corrected visual acuity. Mean patient age was 79.23 years (range 62-88). A significant correlation was found between interocular photopic flicker latency difference and BCVA improvement (  = 0.04, < 0.05). Patients with ≤ 8 ms latency difference showed significantly better visual recovery (≥ 2-line gain). No significant correlations were found with diabetes status, original surgical procedure types, or time to symptom onset. In this hypothesis-generating pilot study of acute postoperative endophthalmitis, a smaller interocular flicker ERG latency difference at presentation is associated with better visual recovery. These preliminary findings suggest that this rapid, noninvasive functional test may have potential as a prognostic biomarker and warrants further validation in larger cohorts, complementing existing clinical and microbiological parameters in the management of this sight-threatening infection.

Background CLN2 disease (Neuronal Ceroid Lipofuscinosis Type 2) is an ultra-rare, neurodegenerative lysosomal storage disease, caused by an enzyme deficiency of tripeptidyl peptidase 1 (TPP1). Lack of disease awareness and the non-specificity of presenting symptoms often leads to delayed diagnosis. These guidelines provide robust evidence-based, expert-agreed recommendations on the risks/benefits of disease-modifying treatments and the medical interventions used to manage this condition. Methods An expert mapping tool process was developed ranking multidisciplinary professionals, with knowledge of CLN2 disease, diagnostic or management experience of CLN2 disease, or family support professionals. Individuals were sequentially approached to identify two chairs, ensuring that the process was transparent and unbiased. A systematic literature review of published evidence using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidance was independently and simultaneously conducted to develop key statements based upon the strength of the publications. Clinical care statements formed the basis of an international modified Delphi consensus determination process using the virtual meeting (Within3) online platform which requested experts to agree or disagree with any changes. Statements reaching the consensus mark became the guiding statements within this manuscript, which were subsequently assessed against the Appraisal of Guidelines for Research and Evaluation (AGREEII) criteria. Results Twenty-one international experts from 7 different specialities, including a patient advocate, were identified. Fifty-three guideline statements were developed covering 13 domains: General Description and Statements, Diagnostics, Clinical Recommendations and Management, Assessments, Interventions and Treatment, Additional Care Considerations, Social Care Considerations, Pain Management, Epilepsy / Seizures, Nutritional Care Interventions, Respiratory Health, Sleep and Rest, and End of Life Care. Consensus was reached after a single round of voting, with one exception which was revised, and agreed by 100% of the SC and achieved 80% consensus in the second voting round. The overall AGREE II assessment score obtained for the development of the guidelines was 5.7 (where 1 represents the lowest quality, and 7 represents the highest quality). Conclusion This program provides robust evidence- and consensus-driven guidelines that can be used by all healthcare professionals involved in the management of patients with CLN2 disease and other neurodegenerative disorders. This addresses the clinical need to complement other information available.

Background Fabry disease (FD) is an X-linked inherited storage disorder caused by deficiency of lysosomal alpha-Galactosidase A. Here we describe new retinal findings in patients with FD assessed by Spectral domain optical coherence tomography (SD-OCT) and their possible clinical relevance. Methods 54 eyes of 27 FD patients and 54 eyes of 27 control subjects were included. The ophthalmic examination included visual acuity testing, tonometry, slit lamp and fundus examination. SD-OCT imaging of the macula was performed in all subjects. Central retinal thickness and retinal nerve fiber layer analysis were quantified. Vessel tortuosity was obtained by a subjective scoring and mathematically calculated. Inner retinal hyperreflective foci (HRF) were quantified, clinically graded and correlated with a biomarker of Fabry disease (lyso-Gb3). Results In comparison to an age-matched control group, a significant amount of HRF was identified in macular SD-OCT images in FD patients. These HRF were localized within the inner retinal layers. Furthermore, lyso-Gb3 levels correlated significantly with the quantitative evaluation of HRF ( p  < 0,001). In addition, the vessel tortuosity was remarkably increased in FD patients compared to control persons and correlated significantly with lyso-G3 levels ( p  = 0.005). A further subanalysis revealed significantly higher HRF and vessel tortuosity scores in male patients with the classic FD phenotype. Conclusions The observational, cross sectional, comparative study describes novel intraretinal findings in patients with FD. We were able to identify suspicious HRF within the inner retinal layers. These findings were not accompanied by functional limitations, as visual acuity remained unchanged. However, HRF correlated well with lyso-Gb3, a degradation product of the accumulating protein Gb3 and might potentially indicate Gb3 accumulation within the highly metabolic and densely vascularized macula.

We have recently demonstrated that neural stem cell-based intravitreal co-administration of glial cell line-derived neurotrophic factor (GDNF) and ciliary neurotrophic factor (CNTF) confers profound protection to injured retinal ganglion cells (RGCs) in a mouse optic nerve crush model, resulting in the survival of ~38% RGCs two months after the nerve lesion. Here, we analyzed whether this neuroprotective effect is long-lasting and studied the impact of the pronounced RGC rescue on axonal regeneration. To this aim, we co-injected a GDNF- and a CNTF-overexpressing neural stem cell line into the vitreous cavity of adult mice one day after an optic nerve crush and determined the number of surviving RGCs 4, 6 and 8 months after the lesion. Remarkably, we found no significant decrease in the number of surviving RGCs between the successive analysis time points, indicating that the combined administration of GDNF and CNTF conferred lifelong protection to injured RGCs. While the simultaneous administration of GDNF and CNTF stimulated pronounced intraretinal axon growth when compared to retinas treated with either factor alone, numbers of regenerating axons in the distal optic nerve stumps were similar in animals co-treated with both factors and animals treated with CNTF only.

Purpose. To investigate the efficacy and safety profile of retinal tacks (RTs) in cases of retinal detachment (RD) with advanced proliferative vitreoretinopathy (PVR). Materials and Methods. In this single-center, retrospective study medical record, optical coherence tomography and ultra-widefield fundus images of patients with complex PVR-related and RT surgery were reviewed. All cases underwent 23G pars plana vitrectomy (PPV), RT implantation, retinectomy, circumferential intraoperative laser retinopexy, and silicone oil tamponade. Results. Fourteen eyes of 14 patients with complex rhegmatogenous RD with PVR were included: 7 cases showed PVR grade C type P and 7 combined grades A and P. RTs were positioned at contracted, stiffened retinal areas to achieve attachment of retinectomy borders after extensive PVR peeling. Patients underwent on an average of 1.3 PPVs (range 0–3) prior RT surgery. An average of 2.5 RTs (range 1–4) were implanted. Only in a single eye, a recurrent RD occurred. In 10 eyes, the silicone oil tamponade was still in place at the last follow-up. In 5 eyes, the silicone oil could be removed without redetachment in all of these cases (average of 31.3 weeks, range 11.4–53). No RT-related intraoperative or postoperative complications like dislocation or bleedings were observed. Conclusion. RTs have the potential to improve the treatment of complex PVR-associated RD. RT can be a useful surgical tool to reattach borders of retinectomies in advanced PVR. No RT-associated complication were observed in this study.

To investigate the presence of peripapillary retinal nerve fiber layer (pRNFL) degeneration in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease and to evaluate the role of optical coherence tomography (OCT) assessed pRNFL thickness as a biomarker for CLN2 disease progression. Forty eyes of 20 patients with genetically and enzymatically confirmed diagnosis of late-infantile CLN2 disease were included in this retrospective cohort study. All patients received 300 mg of intracerebroventricular enzyme replacement treatment (cerliponase alfa) once every two weeks. OCT imaging was performed under general anesthesia using spectral domain OCT (Heidelberg Engineering, Heidelberg, Germany). PRNFL thickness and central retinal thickness (CRT) values were manually confirmed with the Heidelberg Eye Explorer software. Corresponding pediatric data were extracted from the DEM-CHILD database. Spearman correlation coefficient values (rs) were calculated between pRNFL and CRT values, age at examination, the Weill Cornell Late Infantile Neuronal Ceroid Lipofuscinosis (Weill Cornell LINCL) Scale and the Hamburg Motor and Language (HML) Scale. Fourteen of 20 patients underwent serial examinations resulting in a total of 84 OCT Scans and 42 Weill Cornell LINCL and HML Scale scores. Mean age was 6.90 years and mean follow-up time was 1.38 years. Mean global pRNFL (G-pRNFL) thickness was 77.02 μm presenting a significant decrease compared to normative values from healthy children (106.45 μm; p < 0.0001). G-pRNFL displayed significant correlations towards age at examination = - 0.557, p < 0.01), the Weill Cornell LINCL Scale = 0.849, p < 0.01), and the HML Scale = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients. Patients with late-infantile CLN2 disease exhibit early onset progressive pRNFL loss regardless of outer retinal degeneration, highlighting the potential of pRNFL as an independent ocular biomarker for retinal pathology in late-infantile CLN2 disease.

X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, relationship between structural and functional parameters, and disease progression is vital. In this retrospective multicentre study, 118 eyes of 59 XLRS patients with mutations were assessed. Information from center databases included: variant; age at presentation; best-corrected visual acuity (BCVA), central retinal thickness (CRT), macular volume (MV) at presentation and at the last follow up; full-field electroretinogram (ERG) findings; presence of peripheral retinoschisis and complications (vitreous hemorrhage, retinal detachment); treatment with systemic or topical carbonic anhydrase inhibitors (CAI). Inter-eye symmetry revealed strong correlation in CRT ( = 0.77; < 0.0001) and moderate correlations in MV ( = 0.51, < 0.0001) and BCVA ( = 0.49; < 0.0001). Weak or no correlations were observed between BCVA and structural parameters (CRT, MV). Peripheral retinoschisis was observed in 40 (68%), retinal detachment in 9 (15%), and vitreous hemorrhage in 5 (8%) patients, respectively. Longitudinal examinations (mean, 4.3 years) showed no BCVA changes; however, a reduction of the CRT ( = 0.02), and MV ( = 0.01) was observed. Oral and/or topical CAI treatment did not significantly alter the CRT ( = 0.34). The XLRS phenotype demonstrates a strong CRT symmetry between the eyes within individual patients and stable BCVA over several years. BCVA exhibits a weak correlation with the morphological parameters of retinal thickness (CRT MV). In our cohort, longitudinal functional changes were not significant, likely attributed to the short average follow-up period. Furthermore, CAI treatment didn't influence both morphological and functional outcomes.

BackgroundTo investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients.MethodsTreatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA) testing with ETDRS charts, spectral domain optical coherence tomography, and microperimetry (MP) twice a day, at 9 a.m. and 4 p.m., to measure changes in central retinal thickness (CRT), macular volume (MV), average threshold (AT), and fixation stability parameters (P1 and P2).ResultsAt baseline, the BCVA of the 14 eyes of 8 patients amounted 0.73 (± 0.23) LogMAR. Between timepoints, the BCVA increased in 3.21 letters (p = .021), the AV improved in 1.84 dB (p = .03, 9.73%), the CRT decreased in 24.43 µm (p = .007, − 4.05%), and the MV dropped in 0.27 µm3 (p = .016, − 2.68%). P1 and P2 did not variate. The collapse of the MCS led to the reduction of macula thickness. CRT at baseline correlated with the decrease of CRT (Spearman’s ρ: − 0.83 [p = .001]). Age and change of BCVA, CRT, and AV did not correlate among one another. Eyes with disrupted ellipsoid zone showed a more prominent change in CRT (p = .050). Photoreceptor outer segment length and integrity of the external limiting membrane and cone outer segment tips were not associated with BCVA, AT, or CRT variation.ConclusionEyes of treatment-naïve XLRS patients show diurnal macular thickness and function changes. Eyes with pronounced macular thickness show a greater reduction of the MCS. These results should be taken into consideration in upcoming clinical trials in XLRS.Trial registration numberInstitutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020–10,328.

Background To investigate the presence of silicone oil (SO)-emulsification on the anterior iris surface with anterior segment optical coherence tomography (AS-OCT). Methods In this single-center cross-sectional study, vitrectomized eyes with SO tamponade that underwent AS-OCT imaging and gonioscopy examination during the postoperative follow-up visits, were reviewed. Results 45 eyes of 42 consecutive patients were included. In 35.6% of the eyes ( n  = 16) emulsified SO droplets were detected in the anterior chamber (AC) angle by gonioscopy and in 55.6% ( n  = 25) on the anterior iris surface by AS-OCT imaging. The presence of SO emulsifications in the AC-angle correlated with the presence of SO emulsifications on the anterior iris surface (OR = 13.4, 95% CI [2.179–82.130]; p  = 0.005). The accuracy of the AS-OCT predicting the presence of SO in the AC-angle was 71.0% and the sensitivity was 87.5%. No significant association between SO droplets in the AC and other clinical parameters including endotamponade-duration or type of silicone oil were found. The presence of emulsified SO droplets on the anterior iris surface detected by AS-OCT was significantly correlated to postoperative IOP rise ( p  = 0.027). Conclusion AS-OCT is a suitable method for the detection of SO on the anterior iris surface. SO droplets on the iris surface correlate with elevated postoperative IOP and with the presence of SO in the AC detected by gonioscopy, therefore AS-OCT might be used as a screening method for the detection of SO migration into the AC. Trial registration number Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2023-300372-WF.