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Nikolaos Gkalapis,1,2,&ast; Simon Dulz,1,&ast; Carsten Grohmann,1 Miriam Nickel,3 Christoph Schwering,3 Eva Wibbeler,3 Martin Stephan Spitzer,1 Angela Schulz,3 Yevgeniya Atiskova1 1Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 2Department of Ophthalmology, University Hospital of Martin Luther University Halle/Wittenberg, Halle (Saale), Germany; 3Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany&ast;These authors contributed equally to this workCorrespondence: Yevgeniya Atiskova, Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, Hamburg, 20246, Germany, Tel +49 (0) 40 7410 – 52301, Fax +49 (0) 40 7410 – 42301, Email y.atiskova@uke.dePurpose: 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.Patients and Methods: 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.Results: 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 (rs = - 0.557, p < 0.01), the Weill Cornell LINCL Scale (rs = 0.849, p < 0.01), and the HML Scale (rs = 0.833, p < 0.01). Repeated measurements indicated decreases in pRNFL thickness over time in most patients.Conclusion: 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.Keywords: neuronal ceroid lipofuscinosis, optic nerve, optical coherence tomography, retina, neurodegeneration, eye

High-contrast direct imaging of exoplanets can provide many important observables, including measurements of the orbit, spectra that probe the lower layers of the atmosphere, and phase variations of the planet, but cannot directly measure planet radius or mass. Our future understanding of directly imaged exoplanets will therefore rely on extrapolated models of planetary atmospheres and bulk composition, which need robust calibration. We estimate the population of extrasolar planets that could serve as calibrators for these models. Critically, this population of "standard planets" must be accessible to both direct imaging and the transit method, allowing for radius measurement. We show that the search volume of a direct imaging mission eventually overcomes the transit probability falloff with semimajor axis, so that as long as cold planets are not exceedingly rare, the population of transiting planets and directly imageable planets overlaps. Using current extrapolations of Kepler occurrence rates, we estimate that ∼8 standard planets could be characterized shortward of 800 nm with an ambitious future direct imaging mission like LUVOIR-A and several dozen could be detected at the V band. We show the design space that would expand the sample size and discuss the extent to which ground-and space-based surveys could detect this small but crucial population of planets.

Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p. D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was performed in all our patients carrying the p. D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with FD could be identified in 10 patients. Cerebrovascular events occurred in 4 females. Seven patients reported pain or acroparaesthesia. Cornea verticillata was found in 1 patient, mild retinal vascular tortuosity in 5 patients. Lyso-Gb3 was elevated in 2 females with cerebrovascular involvement. Classical cardiac, renal or skin manifestations could not be identified. The mutation p. D313Y in the GLA gene may lead to organ manifestations and elevation of the Fabry-specific biomarker lyso-Gb3. Neurological symptoms (stroke and pain) and ocular manifestations seem to be the leading findings. Annual routine visits are recommended for patients carrying the p. D313Y mutation. Enzyme replacement therapy might be considered in symptomatic patients. [ABSTRACT FROM AUTHOR]

Background:Primary hyperoxaluria type 1 (PH1) is a rare congenital metabolic disorder of the glyoxylate pathway, which manifests with nephrocalcinosis, urolithiasis, and end-stage renal failure (ESRD) as well as deposition of oxalate crystals within ocular tissues. This report demonstrates classical ocular features of PH1 of the posterior pole and furthermore highlights the ocular genotype–phenotype variability among siblings with identical compound heterozygous alanine-glyoxylate aminotransferase (AGXT) mutations. Materials and Methods: Two siblings, an 8-year-old boy and an 18-year-old girl, with genetically confirmedAGXTmutation (c.364C>T (p.R122X) and c.33dupC), but different renal phenotype underwent an ophthalmic examination, including slit-lamp examination and funduscopy as well as optical coherence tomography (OCT), near-infrared autofluorescence (NIA), and microperimetry examination. Results: The 8-year-old boy presented with a best-corrected visual acuity (BCVA) of 20/630. Fundus examination revealed bilateral, whitish oxalate deposits and prominent fibrotic macular scars. OCT imaging illustrated hyperdense deposits in all retinal layers and the choroid and the vitreous body along with a prominent dome-shaped macular fibrosis. NIA imaging outlined macular retinal pigment epithelium (RPE) atrophy with panretinal hyperreflective material. Bilateral symptomatic epiphora was putatively due to bilateral depositions of palpable nodular oxalate deposits at the level of the lacrimal sac. In contrary, the 18-year-old sister presented without any signs of ocular oxalate deposition and a BCVA of 20/20. Conclusions: PH1 is potentially accompanied with a considerable decline in visual acuity due to macular scaring and fibrosis, whereas a profound variability of ocular manifestations can be observed in PH1 patients with identical genotypes. [ABSTRACT FROM AUTHOR]

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., (© 2024. The Author(s).)

Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood and adolescence, and a variety of symptoms. Leukodystrophies are usually progressive, resulting in severe disabilities and premature death. Progressive visual impairment is a common symptom. Currently, no overview of the manifold neuro-ophthalmologic manifestations and visual impact of leukodystrophies exists. Methods: Data from 217 patients in the Hamburg leukodystrophy cohort were analyzed retrospectively for neuro-ophthalmologic manifestations, age of disease onset, and magnetic resonance imaging, visual evoked potential, and optical coherence tomography findings and were compared with data from the literature. Results: In total, 68% of the patients suffered from neuro-ophthalmologic symptoms, such as optic atrophy, visual neglect, strabismus, and nystagmus. Depending on the type of leukodystrophy, neuro-ophthalmologic symptoms occurred early or late during the course of the disease. Magnetic resonance imaging scans revealed pathologic alterations in the visual tract that were temporally correlated with symptoms. Conclusions: The first optical coherence tomography findings in Krabbe disease and metachromatic leukodystrophy allow retinal assessments. Comprehensive literature research supports the results of this first overview of neuro-ophthalmologic findings in leukodystrophies.

Purpose: Bilateral progressive, symmetrical loss of central retinal thickness (CRT) has been described in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. This study details the pattern of morphological changes underlying CRT loss and disease progression in patients receiving intracerebroventricular (ICV) enzyme replacement therapy (ERT) with cerliponase alfa., Methods: Spectral-domain optical coherence tomography macular cube scans were collected from 16 patients with classic CLN2 disease receiving ICV ERT. Detailed retinal structure analyses were performed on manually segmented horizontal B-scans through the fovea to determine the thickness of six retinal parameters and the extent of ellipsoid zone (EZ) loss., Results: Anatomical changes primarily occurred in photoreceptor (PR)-related retinal parameters and correlated with ocular disease severity. Retinal degeneration began with initial focal parafoveal EZ discontinuities signaling the onset of rapid PR degeneration in a predictable pattern: parafoveal PR involvement with foveal sparing followed by profound parafoveal and foveal PR loss with additional thinning beyond the central retina. PR degeneration began with outer segment loss and progressed to outer nuclear layer (ONL) involvement. Longitudinal analyses confirmed these observations. The rate of PR loss was fastest at the fovea at ∼58 mm per year and became slower at locations farther away from the fovea., Conclusions: Retinal degeneration in CLN2 disease is primarily associated with PR loss in a predictable pattern, with EZ disruption signaling early PR stress. CRT, ONL thickness, and PR layer thickness are useful anatomical biomarkers for understanding disease progression and treatment efficacy in CLN2. Studies using en face images will further clarify CLN2-related retinal degeneration.

Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht.

Introduction: 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., Methods: In this retrospective multicentre study, 118 eyes of 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: RS1 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)., Results: Inter-eye symmetry revealed strong correlation in CRT ( r = 0.77; p < 0.0001) and moderate correlations in MV ( r = 0.51, p < 0.0001) and BCVA ( r = 0.49; p < 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 ( p = 0.02), and MV ( p = 0.01) was observed. Oral and/or topical CAI treatment did not significantly alter the CRT ( p = 0.34)., Discussion: 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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Kiraly, Seitz, Abdalla Elsayed, Downes, Patel, Charbel Issa, Birtel, Mautone, Dulz, Atiskova, Herrmann, Vrabič, Jarc-Vidmar, Hawlina and Fischer.)

Background: To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients., Methods: Treatment-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)., Results: At 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 µm 3 (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., Conclusion: Eyes 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 Number: Institutional Review Board of the Hamburg Medical Chamber (Ethik-Kommission der Ärztekammer Hamburg): 2020-10,328., (© 2023. The Author(s).)

Background/aims: Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative, blinding lysosomal storage disorder. The purpose of the current study was to characterise the progression of CLN2-associated retinal degeneration in patients under intraventricular enzyme replacement therapy (ERT) with cerliponase alfa., Methods: We analysed visual function, retinal morphology and neuropaediatric data using preferential looking test (PLT), Weill Cornell Batten Scale (WCBS), optical coherence tomography (OCT) imaging and the Hamburg Motor-Language late-infantile neuronal ceroid lipofuscinosis (LINCL) Scale (M-L scale)., Results: Fifty-six eyes of 28 patients had baseline PLT, WCBS and OCT. 15 patients underwent serial examinations, resulting in a total of 132 OCT scans and WCBS results, 66 Hamburg M-L scores and 49 PLT results during a mean follow-up time of 18.2 months (range 5-40). A negative correlation (r=-0.69, p<0.001) was found between central retinal thickness (CRT) values and age at examination with a maximal annual decrease of 23 µm between 56 and 80 months of age. A significant correlation was observed between PLT results and the age at examination (r=0.46, p=0.001), the WCBS scores (r=0.62; p<0.001) and CRT values (r=-0.64; p<0.001). The M-L score correlated with the ocular measurements (CRT: r=0.58, p<0.001; WCBS r=-0.64, p<0.001; PLT score: r=-0.57, p<0.001)., Conclusion: Despite intraventricular ERT, retinal degeneration progressed in patients with CLN2 and was particularly pronounced between 56 and 80 months of age. Retina-directed therapies should therefore be initiated before or as early as possible during the phase of rapid retinal degeneration. PLT and WCBS were identified as valuable outcome measures to monitor disease progression., Trial Registration Number: NCT04613089., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis. Patients referred to a uveitis clinic, which turned out to have XLRS ( n = 4), and patients referred to a clinic for inherited retinal diseases ( n = 18) were included. All patients underwent comprehensive ophthalmic examinations, including retinal imaging with fundus photography, ultra-widefield fundus imaging, and optical coherence tomography (OCT). In patients with an initial diagnosis of uveitis, a macular cystoid schisis was always interpreted as an inflammatory macular edema; vitreous hemorrhages were commonly interpreted as intraocular inflammation. Patients with an initial diagnosis of XLRS rarely (2/18; p = 0.02) showed vitreous hemorrhages. No additional demographic, anamnestic, and anatomical differences were found. An increased awareness of XLRS as a uveitis masquerade syndrome may facilitate early diagnosis and may prevent unnecessary therapies.

Background: Mantle cell lymphomas (MCL) represent a rare subclass of Non-Hodgkin Lymphoma affecting the lacrimal gland (GL)., Aim: To extensively describe the immunohistochemical profile of GL-MCL., Material Und Methods: Single center, retrospective electronic records review of 3 patients with biopsy proven LG-MCL., Results: The herein presented case series of three patients comprises a focal case involving solely the lacrimal gland, a symptomatic LG-MCL manifesting as the first sign of a systemic disease as well as a case of LG-MCL presenting as a relapsed systemic lymphoma. The three patients presented positive CD19 and CD20, negative CD10 and CD23. One patient showed an uncommon negativity for CD5. The increased expression of cyclin D1 caused by the classical translocation t(11;14) (q13;q32) in the fluorescence-in-situ-hybridisation were observed in all cases. B-cell-lymphoma-2 protein (BCL-2) and transcription factor SOX-11 (SOX-11) were also overexpressed., Discussion: LG-MCL show an immunohistochemical profile corresponding to the classical profile of MCL. Overexpression of molecules for target therapies was found in all cases (CD20 for rituximab, BCL2 for Bruton-kinase-inhibitors and CD19 for CAR-T cell therapy). The removal of the GL can potentially drive to severe complications, even if aimed to confirm diagnosis. Therefore, the choice between GL-biopsy and exstirpation should be carefully evaluated, especially in cases of suspected lymphoma., Competing Interests: Die Autorinnen/Autoren geben an, dass kein Interessenkonflikt besteht., (Thieme. All rights reserved.)

Purpose: Patients with CLN2 suffer from epileptic seizures, rapid psychomotor decline and vision loss in early childhood. The aim of the study was to provide longitudinal ophthalmic data of patients with confirmed genetic mutation and non-classical disease course, marked by later onset, protracted progression and prolonged life span., Methods: Prospective, observational study to assess visual acuity, retinal features (Weil Cornell Ophthalmic Score), central retinal thickness (CRT) measured by optical coherence tomography and general disease progression (Hamburg CLN2 motor language score) in non-classical CLN2 patients., Results: All patients received intracerebroventricular enzyme replacement therapy with cerliponase alfa. Mean age at last follow-up was 12.4 years; mean follow-up time 2.6 years. All cases demonstrated a stable Hamburg motor language CLN2 Score and Weill Cornell LINCL Ophthalmic Severity Score. Visual function remained stable in 4/6 patients, 2/6 patients showed a decrease, 4/6 cases had a stable CRT and 2/6 showed a reduction of CRT. One patient showed a massive macular thinning and low vision. A correlation with a specific mutation or age could not be verified., Discussion: The presented longitudinal study characterizes the variable ocular involvement in non-classical CLN2 disease and contributes to the natural history description. The functional and morphologic data outline the necessity of regular ophthalmic examination. Ocular phenotyping and description of retinal degeneration in non-classical CLN2 disease., (© 2022. The Author(s).)

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., Competing Interests: The authors have no conflicts of interest to declare., (Copyright © 2022 Luca Mautone et al.)

Background: Open and minimally invasive tear duct surgery are among the common surgical indications; however, little is known so far about the respective influences on the quality of life., Objective: The aim of this study was to compare the subjective influence on the quality of life of patients after open and minimally invasive surgical techniques for recanalization of dacryostenosis., Material and Methods: From the collective of patients who were surgically treated at the University Medical Center Hamburg-Eppendorf from 2015 to 2018, a total of 169 patients (111 dacryocystorhinostomy, DCR, 58 endoscopy) took part in the survey and answered 9 questions about subjective satisfaction, which were evaluated also comparatively., Results: When asked about postoperative satisfaction, the patients were significantly more satisfied after DCR (p = 0.001) than the patients who underwent a lacrimal endoscopy. There was no significant difference in terms of postoperative complications (p = 0.348). The rate of reoperations, however, was significantly higher in the patient group who underwent lacrimal endoscopy (χ 2 -test, p = 0.004)., Conclusion: In summary it can be said that DCR is not inferior to lacrimal endoscopy in terms of patient satisfaction., (© 2021. The Author(s).)

Background: There is largely a lack of clarity on the question of whether refraction or topography changes are to be expected after blepharoplasty, levator resection, or a lateral tarsal strip procedure., Materials and Methods: Therefore, in the present study, objective refraction, anterior eye segment tomography, and visual acuity tests were carried out pre- and postoperatively in 78 patients and then analyzed. The examination was carried out preoperatively, at suture removal after 10 days, and after 3 months., Results: Neither after blepharoplasty nor after a lateral tarsal strip procedure were significant changes in vision or refraction seen in the topography. In contrast, the Wilcoxon sign test 10 days after levator resection showed a significant increase in the cylinder after 10 days compared to the preoperative level (p = 0.042). However, this change was no longer detectable after 3 months., Conclusion: The authors postulate that extensive patient education with regard to temporary visual changes, particularly in the case of levator resections, is essential and that additional refraction and topography control can be useful postoperatively., (© 2021. The Author(s).)

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., (© 2021. The Author(s).)