Retinal Vascular Abnormalities Research Articles

Retinal Vascular Abnormalities and Clinical Parameters in Systemic Sclerosis

Background: Systemic sclerosis is a complex autoimmune disease characterized by vasculopathy, fibrosis, and immune dysregulation. Ocular manifestations in these patients are increasingly recognized, suggesting potential correlations between systemic vascular abnormalities and ocular microvascular changes. Advancements in molecular immunology and imaging technology using ocular coherence tomography (OCT) have unveiled intricate pathways underlying possible disease pathogenesis. Understanding the interplay between retinal vascular abnormalities and molecular immunology parameters could provide insights into disease mechanisms and potential biomarkers. Purpose: The aim of this study was to investigate vascular abnormalities, detected with optical coherence tomography angiography (OCT-A), in systemic sclerosis patients and to find correlations between the severity of the disease detected with molecular immunology findings and OCT-A parameters. Methods: A group of 32 systemic sclerosis patients were compared with 9 healthy controls. Ganglion cell complex thickness (GCC), retina thickness of the fovea and parafovea, nerve fiber layer thickness (RNFL) and cup/disc area ratio were investigated using OCT. Vessel density (VD) of the superficial (SCP) and deep capillary plexus (DCP) of the whole macular area and ETDRS grid, size of the foveal avascular zone (FAZ) and vessel density of the radial peripapillary capillary plexus (RPCP) were evaluated using OCT-A. Modified Rodnan skin score (mRSS), capillaroscopy and disease duration were used to stage disease severity. Results: There was a statistically significant reduction in retina thickness of the fovea and parafovea, VD of the whole DCP, VD of the SCP and DCP in ETDRS grid in the patient group compared to controls (p < 0.001). The patients presented a significant enlargement of the FAZ (p 0.005). No significant correlation between OCT and OCT-A parameters and disease severity scores was found. Conclusions: OCT-A could represent a non-invasive tool to detect retinal microvascular damage in systemic sclerosis.

Ocular manifestations of severe familial hypercholesterolemia

BackgroundTo study ocular manifestations of patients with severe familial hypercholesterolemia (FH). MethodsIn this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial Hypercholesterolemia Registry, along with age and gender-matched healthy controls were recruited. All participants underwent a comprehensive eye examination, and patients underwent fluorescein angiography as well. Logistic regression models were used to identify any association between patients with severe familial hypercholesterolemia and abnormal eye findings, while adjusting for hypertension and pack-year smoking. The main outcome measure of this study was the development of ocular vascular abnormalities. Results28 patients and 28 controls were recruited. Patients with severe familial hypercholesterolemia had significantly greater odds of developing corneal arcus and xanthelasmas than the control group (p < 0.001). Retinal vascular abnormalities (plaques) were exclusively and more significantly present in patients with familial hypercholesterolemia (18 %). Similarly, retinal arteriosclerosis was exclusively and significantly more prevalent in the familial hypercholesterolemia group (p < 0.001, adjusted odds ratio 6.8). Stratification by LDL levels and genotypes did not show any significant change in the prevalence of any ocular finding. ConclusionIn addition to the well-established increase in incidence of corneal arcus and xanthelasmas, severe familial hypercholesterolemia patients have more prevalent retinal vascular abnormalities that include vascular plaques and arteriosclerosis.

Retinal vascular abnormalities in myotonic dystrophy assessed by optical coherence tomography angiography - Cross-sectional study.

The aim of the study was to detect the changes in retinal and choroidal vasculature via optical coherence tomography angiography (OCTA) by comparing the quantitative OCTA parameters in patients with and without myotonic dystrophies (DM). The cross-sectional study. Forty-one consecutive patients affected by DMs were enrolled. The inclusion criteria were molecular diagnosis of DM types 1 and 2. To avoid the age effect on microvascular changes and to justify a comparison between DM1 and DM2 patients, two control groups matched for sex and age were established. The vascular density was found to be significantly decreased in the DM groups compared to the controls in the macular, parafoveal and perifoveal zone of superficial capillary plexus (p < 0.001 for the DM1 group, and p = 0.001, p = 0.005 and p = 0.026, respectively, for the DM2 group), as well as in the macular zone in the deep capillary plexus for DM1 (p = 0.002) and deep macular and perifoveal zone for DM2 (p = 0.007, p = 0.001, respectively). The foveal avascular zone showed no significant differences between DM1 and DM2 compared to their control groups (p = 0.320 and p = 0.945, respectively). Our results show that DM is associated not only with the classic pigmentary changes but also with superficial and deep retinal microvasculature abnormalities, suggesting that these changes may be related to local hypoperfusion. Optical coherence tomography angiography is a useful tool for the diagnosis and characterization of retinal changes in DM and should be part of the standard evaluation of these patients.

Histologic correlates of "Choroidal abnormalities" in Neurofibromatosis type 1 (NF1).

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder characterized by proliferation of cells from neural crest origin. The most common manifestations are cutaneous, neurologic, skeletal and ocular. The distinction of NF1 from other syndromes with multiple café-au-lait macules may be difficult in the pediatric age group, and ocular findings, especially Lisch nodules (i.e., melanocytic hamartomas on the irides), are a useful, early diagnostic tool. In recent years, novel ocular manifestations descriptively referred to as "choroidal abnormalities", choroidal "hyperpigmented spots" and "retinal vascular abnormalities" have been recognized in NF1. Choroidal abnormalities (CA) appear as bright patchy nodules that can be best detected with near-infrared ocular coherence tomography imaging (NIR-OCT). Because of their high specificity and sensitivity for NF1, CA have been added as an ocular diagnostic criterion of NF1 as an alternative to Lisch nodules. Although CA are important ocular diagnostic criteria for NF1, the histologic correlates are controversial. We present the postmortem ocular pathology findings of an NF1 patient for whom clinical notes and ocular imaging were available. Findings in this patient included choroidal hyperpigmented spots on funduscopy and retinal vascular abnormalities, both of which have been reported to be closely associated with CA. Histologic examination of the eyes showed multiple clusters of melanocytes of varying sizes in the choroid. Pathologic review of 12 additional postmortem eyes from 6 NF1 patients showed multiple, bilateral choroidal melanocytic aggregates in all eyes. These findings suggest that the CA seen on NIR-OCT and the hyperpigmented spots seen clinically in NF1 patients are manifestations of multifocal choroidal melanocytic clusters, consistent with choroidal melanocytic hamartomas. Lisch nodules, often multiple, were present in all eyes with morphology that differed from the choroidal hamartomas. As such, although CA and Lisch nodules are melanocytic hamartomas, there are clear phenotypical differences in their morphologies.

Increased Risk of New-Onset Parkinson's Disease Following a Diagnosis of Retinal Vascular Occlusion: A 14-Year Cohort Study.

Although the role of the vascular component in the pathophysiology of Parkinson's disease is widely accepted and retinal vascular abnormalities are commonly observed in Parkinson's disease patients, evidence connecting retinal vascular disorders with the risk of developing Parkinson's disease is limited. We aimed to investigate the association between retinal vascular occlusion (RVO) and the risk of developing Parkinson's disease in people over 60 years using a nationwide cohort. From the 14-year South Korean National Health Insurance Service-Senior cohort, 11210 incident RVO patients and 11210 propensity scores, risk-matched controls were included. The incidence of Parkinson's disease was estimated with a Poisson regression. A Cox proportional hazards regression model was used to investigate the associations between RVO and the risk of Parkinson's disease. The incidence of Parkinson's disease was 664.4 cases per 100000 person-years (95% confidence interval [CI], 599.7-736.0) in the RVO cohort. Individuals with RVO had an increased incidence of Parkinson's disease (hazard ratio [HR], 1.28; 95% CI: 1.10-1.49). Increased PD risk was predominantly observed in retinal artery occlusion patients (HR, 1.53; 95% CI: 1.11-2.12), male patients (HR, 1.67; 95% CI: 1.29-2.17), and 5 years after diagnosis (HR, 1.46; 95% CI: 1.10-1.93). Our findings suggest that a common pathophysiological pathway, such as vasculature changes, may exist between RVO and Parkinson's disease. RVO may be one of the risk factors associated with future development of Parkinson's disease. The nature of this association warrants further investigation.

Retinal vascular pathology in a mouse model of Lafora progressive myoclonus epilepsy

Neurodegenerative diseases (ND) affect distinct populations of neurons and manifest various clinical and pathological symptoms. A subset of ND prognoses has been linked to vascular risk factors. Consequently, the current study investigated retinal vascular abnormalities in a murine model of Lafora neurodegenerative disease (LD), a fatal and genetic form of progressive myoclonus epilepsy that affects children. Here, arterial rigidity was evaluated by measuring pulse wave velocity and vasculature deformations in the retina. Our findings in the LD mouse model indicate altered pulse wave velocity, retinal vascular thinning, and convoluted retinal arteries.

SERIAL CASES INTRAVITREAL TENECTEPLASE AND PNEUMATIC DISPLACEMENT OF SUBMACULAR HEMORRHAGE

Introduction : OBJECTIVE Submacular hemorrhage {SMH} is uncommon complication of choroidal or retinal vascular abnormalities, including choroidal neovascularization {CNV}, polypoidal choroidal vasculopathy {PCV} and retinal macroaneurysm of these, PCV is condition most frequency associated with large SMH {reported in 20%-63% of eyes with PCV} PURPOSE To presence successful management of submacular hemorrhage with combination injection intravitreal {IVT} Tenecteplase and gas C3F8 100%&#x0D; Case Illustration : METHODES All patient with SMH already take foto fundus and OCT pre and post IVT methalyse and gas C3F8 100%. All patients undergone IVT gas C3F8 100% 0.2 cc and take a rest for 20 second after that IVT methalyse 0.1 cc was injected. Positioning 1st 24 hours: Free Positioning, 2nd 24 hour: Positioned face down, 3rd days: Follow up.&#x0D; Discussion : RESULT The submacular hemorrhage move out from macular for all of cases. Vision improvement occourred in all cases.&#x0D; Conclusion : CONCLUTION Intravitreal Tenecteplase in conjunction with pneumatic displacement appears effective in displacing submacular blood.

Porous Se@SiO2 nanospheres alleviate diabetic retinopathy by inhibiting excess lipid peroxidation and inflammation

BackgroundLipid peroxidation is a characteristic metabolic manifestation of diabetic retinopathy (DR) that causes inflammation, eventually leading to severe retinal vascular abnormalities. Selenium (Se) can directly or indirectly scavenge intracellular free radicals. Due to the narrow distinction between Se’s effective and toxic doses, porous Se@SiO2 nanospheres have been developed to control the release of Se. They exert strong antioxidant and anti-inflammatory effects.MethodsThe effect of anti-lipid peroxidation and anti-inflammatory effects of porous Se@SiO2 nanospheres on diabetic mice were assessed by detecting the level of Malondialdehyde (MDA), glutathione peroxidase 4 (GPX4), decreased reduced/oxidized glutathione (GSH/GSSG) ratio, tumor necrosis factor (TNF)-α, interferon (IFN)-γ, and interleukin (IL) -1β of the retina. To further examine the protective effect of porous Se@SiO2 nanospheres on the retinal vasculopathy of diabetic mice, retinal acellular capillary, the expression of tight junction proteins, and blood–retinal barrier destruction was observed. Finally, we validated the GPX4 as the target of porous Se@SiO2 nanospheres via decreased expression of GPX4 and detected the level of MDA, GSH/GSSG, TNF-α, IFN-γ, IL -1β, wound healing assay, and tube formation in high glucose (HG) cultured Human retinal microvascular endothelial cells (HRMECs).ResultsThe porous Se@SiO2 nanospheres reduced the level of MDA, TNF-α, IFN-γ, and IL -1β, while increasing the level of GPX4 and GSH/GSSG in diabetic mice. Therefore, porous Se@SiO2 nanospheres reduced the number of retinal acellular capillaries, depletion of tight junction proteins, and vascular leakage in diabetic mice. Further, we identified GPX4 as the target of porous Se@SiO2 nanospheres as GPX4 inhibition reduced the repression effect of anti-lipid peroxidation, anti-inflammatory, and protective effects of endothelial cell dysfunction of porous Se@SiO2 nanospheres in HG-cultured HRMECs.ConclusionPorous Se@SiO2 nanospheres effectively attenuated retinal vasculopathy in diabetic mice via inhibiting excess lipid peroxidation and inflammation by target GPX4, suggesting their potential as therapeutic agents for DR.

Intra-Anterior Chamber Injection of Ranibizumab in Advanced Pediatric Vitreoretinal Diseases

Anti-vascular endothelial growth factor (VEGF) treatment through intravitreal or subretinal administrations has been proven effective for VEGF-driven pediatric vitreoretinal diseases but are not feasible for advanced cases, such as shallow traction retinal detachments or peripheral circumferential retinal detachments which adhere to the lens. Intra-anterior chamber injection (IAcI) of anti-VEGF may be a viable alternative in such cases but needs evaluation. To investigate the effects and safety of IAcI of anti-VEGF to treat VEGF-driven pediatric vitreoretinal diseases. This was a retrospective observational case series study conducted at Xinhua Hospital, affiliated with Shanghai Jiao Tong University School of Medicine in China. The study included 14 eyes of 13 children diagnosed with vitreoretinal disease exhibiting elevated vascular activity between January and August 2023. IAcI with ranibizumab. Retinal vascular abnormalities, vitreous hemorrhage resolution, and complications 1 month and 3 months after injection. Of 13 patients included in this study, 12 were male. The mean age was 4.6 years (range, 1 month to 9 years). Six patients were diagnosed with familial exudative vitreoretinopathy, 4 with morning glory syndrome, 1 with retinopathy of prematurity, and 2 with chronic retinal detachments of unknown causes. At 1-month postoperative follow-up, vascular activity had decreased in 14 of 14 eyes. At 3-month follow-up, vascular activity had resolved in 7 of 14 eyes, persisted in 6 of 14 eyes, and reactivated in 1 of 14 eyes. On final observation, no complications were reported. These findings support the possibility of treatment using IAcI with ranibizumab to decrease retinal vascular abnormalities in familial exudative vitreoretinopathy or retinopathy of prematurity or related conditions, but further studies are needed to understand more precise benefits and risks. This approach might be considered in cases where intravitreal or subretinal injection are not feasible, recognizing the limitations of these findings and that longer-term outcomes still need to be monitored.

Is Primary Open-Angle Glaucoma a Vascular Disease? Assessment of the Relationship between Retinal Arteriolar Morphology and Glaucoma Severity Using Adaptive Optics.

Retinal vascular abnormalities may be associated with glaucomatous damage. Adaptive optics (AO) is a new technology that enables the analysis of retinal vasculature at the cellular level in vivo. The purpose of this study was to evaluate retinal arteriolar parameters using the rtx1 adaptive optics fundus camera (AO-FC) in patients with primary open-angle glaucoma (POAG) at different stages and to investigate the relationship between these parameters and changes in spectral-domain optical coherence tomography (SD-OCT) and perimetry. Parameters of the retinal supratemporal and infratemporal arterioles (wall thickness (WT), lumen diameter (LD), total diameter (TD), wall-to-lumen ratio (WLR), and cross-sectional area of the vascular wall (WCSA)) were analysed with the rtx1 in 111 POAG eyes, which were divided into three groups according to the severity of the disease, and 70 healthy eyes. The associations between RTX1 values and the cup-to-disk ratio, SD-OCT parameters, and visual field parameters were assessed. Compared with the control group, the POAG groups showed significantly smaller TD and LD values (p < 0.05) and significantly higher WLR and WT values (p < 0.05) for the supratemporal and infratemporal arterioles. TD was significantly positively correlated with the retinal nerve fibre layer (RNFL) and ganglion cell complex (GCC) (p < 0.05). LD was significantly positively correlated with the RNFL, GCC, and rim area (p < 0.05). The WLR was significantly negatively correlated with the RNFL, GCC, rim area, and MD (p < 0.05), while it was significantly positively correlated with the cup-to-disc ratio and PSD (p < 0.05). The results suggest that vascular dysfunction is present in POAG, even at a very early stage of glaucoma, and increases with the severity of the disease.

Peripheral retinal lesions in diabetic retinopathy on ultra-widefield imaging

Abstract: Peripheral retinal imaging plays a crucial role in the diagnosis, management, and prognosis of diabetic retinopathy (DR). Traditional fundus imaging techniques have limited coverage of the retina, resulting in missed peripheral lesions. The advent of ultra-widefield (UWF) imaging has revolutionized the assessment of the peripheral retina. UWF imaging modalities provide comprehensive visualization of the retina, enabling the detection of peripheral lesions without the need for mydriasis. Integration of UWF imaging with other modalities, including fluorescein angiography (FA), indocyanine green angiography, pseudocolor imaging, and fundus autofluorescence, further enhances our understanding of peripheral retinal lesions. UWF imaging has demonstrated improved detection of DR lesions and presumably more accurate management of DR compared to traditional fundus photography and dilated fundus examination. UWF-FA and UWF-optical coherence tomography angiography have emerged as valuable tools for assessing retinal and choroidal vascular abnormalities, nonperfusion areas, neovascularization, and microvascular abnormalities. The presence and increasing extent of predominantly peripheral lesions detected using UWF FA are associated with a higher risk of DR progression and proliferative DR. UWF imaging provides a comprehensive evaluation of DR severity, aiding in more accurate risk stratification and treatment decision-making. Overall, UWF imaging modalities have significantly advanced our understanding of peripheral retinal lesions in DR, facilitating early detection and targeted management for better visual outcomes.

Optic nerve hypoplasia and bilateral persistent fetal vasculature due to TUBA1A tubulinopathy.

To describe a case of TUBA1A-associated optic nerve hypoplasia and persistent fetal vasculature. Observational case report. A female, full term infant was found to have a Dandy-Walker malformation with cerebellar and brainstem hypoplasia, ventriculomegaly, and lissencephaly. Her ophthalmic exam was notable for persistent fetal vasculature, optic nerve hypoplasia, vitreous hemorrhage, and peripheral retinal non-perfusion. Subsequent genetic testing revealed a TUBA1A genetic variant. Persistent fetal vasculature, peripheral retinal vascular abnormalities, and optic nerve hypoplasia may be associated with TUBA1A variants. These patients should be carefully evaluated with dilated retinal exam and fluorescein angiography to detect retinal perfusion abnormalities requiring treatment.

The retina in Alzheimer’s disease: Anatomy and Pathology

AbstractGrowing evidence suggests that Alzheimer’s disease (AD) pathology is not confined to the brain but also appears in the neurosensory retina. Perceived as an extension of the brain, the retina is visible directly and noninvasively at the vascular, cellular and molecular resolution. Aβ accumulation, vascular amyloidosis, hyperphosphorylated (p)tau, microgliosis, astrogliosis, Müller glia changes, abnormal electroretinography patterns, and neuronal degeneration have all been described in the postmortem retina of AD patients, including in early‐stage cases. Although a few studies were unable to consistently repeat these findings, increased proportion of positive studies from subsequent histological, biochemical, and imaging studies validated the original findings. Several studies further provided data suggesting that the brain and retina follow a similar trajectory during AD progression, potentially due to their common embryonic origin and anatomical proximity. A host of retinal vascular abnormalities including reduced blood flow, foveal avascular zone and arteriole‐to‐venule ratio were observed by in vivo fundus imaging, optical coherence tomography (OCT) or OCT‐angiopathy in preclinical, prodromal and clinical AD patients. Further, retinal vascular platelet‐derived growth factor receptor‐β (PDGFRβ) expression and pericyte loss have been associated with retinal vascular amyloidosis and cerebral amyloid angiopathy in mild cognitively impaired (MCI) and AD patients. A recent proteomics profiling study revealed common molecular signatures in the AD retina and brain, with enriched pathways related to inflammation, vascular and photoreceptor vulnerability. Novel imaging techniques, such as curcumin fluorescence, have correlated increases in retinal amyloid burden with brain amyloid PET load and hippocampal atrophy in patients, and together with vascular changes predicted cognitive deficits. This perspective provides an overview on the evidence of AD pathology in the retina and current gaps in knowledge. Future studies exploring retinal pathology in AD and other neurodegenerative diseases may fundamentally contribute to the development of validated retinal biomarkers for improved noninvasive disease diagnosis and monitoring.

Mechanical Regulation of Retinal Vascular Inflammation and Degeneration in Diabetes.

Vascular inflammation is known to cause degeneration of retinal capillaries in early diabetic retinopathy (DR), a major microvascular complication of diabetes. Past studies investigating these diabetes-induced retinal vascular abnormalities have focused primarily on the role of molecular or biochemical cues. Here we show that retinal vascular inflammation and degeneration in diabetes are also mechanically regulated by the increase in retinal vascular stiffness caused by overexpression of collagen-crosslinking enzyme lysyl oxidase (LOX). Treatment of diabetic mice with LOX inhibitor β-Aminopropionitrile (BAPN) prevented the increase in retinal capillary stiffness, vascular ICAM-1 overexpression, and leukostasis. Consistent with these anti-inflammatory effects, BAPN treatment of diabetic mice blocked the upregulation of proapoptotic caspase-3 in retinal vessels, which concomitantly reduced retinal capillary degeneration, pericyte ghost formation, and the diabetes-induced loss of contrast sensitivity in these mice. Finally, our in vitro studies indicate that retinal capillary stiffening is sufficient to increase the adhesiveness and neutrophil elastase-induced death of retinal endothelial cells. By uncovering a link between LOX-dependent capillary stiffening and the development of retinal vascular and functional defects in diabetes, these findings offer a new insight into DR pathogenesis that has important translational potential.

Evaluation of cerebrovascular events via retinal angiography during transcatheter aortic valve implantation

Objectives Patients receiving transcatheter aortic valve implantation (TAVI) are elderly with multiple comorbidities and at increased risk of perioperative cerebrovascular events. Retinal vasculature represents a surrogate of central nervous system circulation and is noninvasively achievable by retinal imaging. The aim of this study was to evaluate the applicability of retinal angiography of microvascular complications and association to cerebral ischemic events during TAVI. Design One hundred patients (male 54%, age: median 82 years, range 64–95 years) undergoing TAVI were recruited for this study. Imaging of retinal vasculature was evaluated with a handheld fundus camera before, during and 1 month after. Cerebrovascular events were determined as a part of contemporary clinical evaluation with cerebral CT and CTA imaging when symptoms occurred. Results Altogether 66/100 patients (66%) were included in the analysis. In-hospital ischemic event (transient ischemic attack, cerebral infarction) was observed in 1/66 patient (1.5%). Retinal vascular abnormalities occurred in 8/66 patients (12.1%); 4/66 patients (6.1%) were detected with a cholesterol plaque in the retinal artery, 2/66 (3%) a capillary leakage, 1/66 (1.5%) and optic disk hemorrhage and 1/66 (1.5%) a macular bleeding. No significant association between retinal vasculature abnormalities and cerebrovascular events was detected mainly due to the low event rate. Conclusions Perioperative evaluation of cerebrovascular ischemia with noninvasive imaging of retinal vasculature is possible in most patients undergoing TAVI. More data is needed to evaluate the association of cerebrovascular events and retinal microvascular abnormalities during the procedure.

Unilateral retinal neovascularization associated with recurrent vitreous hemorrhage in a patient with gyrate atrophy.

To describe the first case of unilateral peripheral retinal neovasularization associated with recurrent vitreous hemorrhage and localised tractional retinal detachment in a patient with gyrate atrophy (GA). Interventional case report. A 23-year-old man with confirmed diagnosis of gyrate atrophy presented with vitreous hemorrhage and history of stable peripheral inferior tractional retinal detachment in the left eye. After three months, the vitreous hemorrhage partially reabsorbed and peripheral retinal vascular abnormalities with focal neovascularization were detected with associated tractional retinal detachment and confirmed on fluorescein angiography. Cryotherapy was performed to prevent any further bleeding. Twelve months later, the left eye remained stable and no further vitreous bleeding occurred. The combination of peripheral retinal neovascularization, localised tractional retinal detachment and recurrent vitreous hemorrhage can be a unilateral complication of gyrate atrophy. In similar cases, cryotherapy may represent a valuable therapeutic option to prevent recurrent bleeding.

MACULAR NEUROVASCULAR ABNORMALITIES IN A CHILD WITH INCONTINENTIA PIGMENTI ON HANDHELD OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY.

To report macular neurovascular abnormalities in a child with incontinentia pigmenti using handheld optical coherence tomography (OCT) and OCT angiography (OCT-A). An eye of a child with incontinentia pigmenti enrolled in BabySTEPS was imaged using an investigational noncontact, handheld swept-source OCT device during examination under anesthesia. Custom MATLAB scripts were used to generate depth-resolved vascular slabs, B-scans with flow overlay, and retinal thickness maps. Depth-resolved OCT and OCT-A imaging demonstrated focal areas of decreased capillary flow that corresponded to areas of both inner retinal and outer retinal thinning on retinal thickness maps. Atypical diving of superficial retinal vessels occurred as they traversed from thin retina to normal-thickness retina. Depth-resolved OCT and OCT-A identified retinal vascular abnormalities that were not evident on fundus photography or fluorescein angiography. This case depicted concurrent, localized abnormalities in retinal thickness and microvasculature in an eye with incontinentia pigmenti.

Insights into Novel Choroidal and Retinal Clinical Signs in Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is a rare inherited neurocutaneous disorder with a major impact on the skin, nervous system and eyes. The ocular diagnostic hallmarks of this disease include iris Lisch nodules, ocular and eyelid neurofibromas, eyelid café-au-lait spots and optic pathway gliomas (OPGs). In the last years, new manifestations have been identified in the ocular district in NF1 including choroidal abnormalities (CAs), hyperpigmented spots (HSs) and retinal vascular abnormalities (RVAs). Recent advances in multi-modality imaging in ophthalmology have allowed for the improved characterization of these clinical signs. Accordingly, CAs, easily detectable as bright patchy nodules on near-infrared imaging, have recently been added to the revised diagnostic criteria for NF1 due to their high specificity and sensitivity. Furthermore, subclinical alterations of the visual pathways, regardless of the presence of OPGs, have been recently described in NF1, with a primary role of neurofibromin in the myelination process. In this paper, we reviewed the latest progress in the understanding of choroidal and retinal abnormalities in NF1 patients. The clinical significance of the recently revised diagnostic criteria for NF1 is discussed along with new updates in molecular diagnosis. New insights into NF1-related neuro-ophthalmic manifestations are also provided based on electrophysiological and optical coherence tomography (OCT) studies.

Peripheral and central retinal vascular changes in asymptomatic family members of patients with familial exudative vitreoretinopathy.

To evaluate the peripheral vascular changes and effects of these on macular microvasculature in asymptomatic family members of familial exudative vitreoretinopathy (FEVR) patients. This is a retrospective study including 61 eyes of asymptomatic family members of FEVR patients. Retinal abnormalities were assessed via ultra-widefield fluorescein angiography (UWF-FA) and optical coherence tomography angiography (OCTA). The eyes were grouped into 3: the first group comprised of eyes with normal findings on UWF-FA; the second group comprised of eyes with abnormal findings on UWF-FA but without any retinal ischemia; and the third group involved eyes with retinal ischemia or neovascularization. Best corrected visual acuity (BCVA) was 20/20 in all eyes. Forty eyes (65.6%) had abnormalities on UWF-FA. The most common feature was peripheral vascular looping, increased tortuosity, and anastomosis (63.9%). ODM/ODD ratio was higher in group 3 compared to groups 1 and 2. Deep foveal VD was lower in group 1 compared to groups 2 and 3. The mean FAZ area and perimeter were smaller in groups 2 and 3 compared to group 1. Even asymptomatic family members of FEVR patients may have significant peripheral retinal vascular abnormalities which may be associated with smaller optic disc, macular ectopia, and macular microvascular changes.

Myelinated retinal nerve fibers associated with retinal vascular abnormalities and retino-vitreal neovascularization complicated by recurrent vitreous hemorrhage (clinical case)

Myelinated retinal nerve fibres are a rare, benign and asymptomatic lesion that is detected incidentally at fundus examination. In some cases, they may be associated with various abnormalities of the eye or have a complicated course. The article presents a clinical case of myelinated retinal nerve fibers associated with retinal vascular abnormalities and retino-vitreal neovascularization complicated by recurrent vitreous hemorrhage.