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Purpose: To investigate microvascular growth defects in the temporal midperipheral retina and their correlations with vitreoretinal microstructural abnormalities (VRMAs) in early-stage familial exudative vitreoretinopathy (FEVR)., Methods: We enrolled 127 patients (127 eyes) with early-stage FEVR and 31 healthy subjects (31 eyes). Widefield optical coherence tomography angiography was conducted for all enrolled eyes. Vessel density (VD), vessel diameter index (VDI), and vessel index (VI; VD/VDI) of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) in temporal midperiphery were further evaluated. The distance from the vessel sprouting point of the optic disc to the avascular area margin (Optic-AVA) was measured to assess retinal vascular dysplasia., Results: In early-stage FEVR, 61.42% of eyes showed retinal microvascular abnormalities (MVAs) in the temporal midperiphery, all combined with VRMAs. Common MVAs presented disordered vascular anastomoses in the SCP and capillary loss in the DCP, corresponding to deficient neuroretina. The preretinal vasculature (PRV) was detected in 36 eyes. VD and VI were lower in FEVR eyes compared to controls, whereas the VDI in the SCP was larger (all P < 0.001). Optic-AVA was positively correlated with VD and VI in both plexuses and negatively correlated with the VDI in the SCP. PRV existence was independently correlated with decreased VI in the DCP (odds ratio [OR] = 0.322; P < 0.001), and VRMA existence was independently correlated with decreased VI in SCP and DCP (SCP OR = 0.282, P = 0.010; DCP OR = 0.562, P = 0.002)., Conclusions: MVAs in the temporal midperipheral retina were revealed. Microvascular loss may be correlated with Optic-AVA reduction, PRV, and the presence of VRMAs.

Purpose: To investigate cases exhibiting overlapping features of persistent fetal vasculature (PFV) and combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) and to explore potential associations between these developmental ocular anomalies., Methods: This retrospective, descriptive case series included 9 eyes of 8 patients aged 0-7 years with shared clinical features of PFV and CHRRPE. Diagnoses were established through clinical examination and intraoperative findings., Results: All eyes exhibited elevated pigmented retinal thickening, increased vascular tortuosity, and preretinal fibrotic/gliotic changes or epiretinal membranes. Macular involvement was observed in 56% of cases; peripapillary involvement, in 44%. Four eyes showed hyaloid stalklike fibrotic remnants extending from the lesion to the posterior lens surface, suggestive of PFV component; the other 5 harbored isolated CHRRPE. One patient presented with PFV in one eye and CHRPPE in the other., Conclusions: This study reveals significant clinical overlap between PFV and CHRRPE, with some cases displaying features typically associated with the other condition. The presence of both diagnoses in the same patient further suggests a potential association between these entities. Further research, including molecular studies, is needed to explore this potential connection and deepen our understanding of ocular development., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation characterised by cutaneous vascular abnormalities, typically diagnosed at birth or in the early postnatal period. Although typically benign, this disease is associated with other systemic abnormalities, including rare ocular alterations, such as congenital glaucoma, cataracts and retinopathy.This manuscript describes a female infant, who presented with generalised livedo reticularis, a band of alopecia and cutaneous atrophy in the temporal region above the coronal suture. The patient was diagnosed with cutis marmorata telangiectatica congenita by a paediatrician, and an ophthalmological evaluation was requested. A funduscopy examination in both eyes showed temporal and superior retina with avascular areas with new vessels, venous dilations and shunts, and no retinal detachments. Given these findings, we performed retinal photocoagulation laser treatment with excellent results.This case report highlights the importance of early ophthalmological evaluation of children with this disease to prevent secondary complications, such as vitreous haemorrhage and tractional retinal detachment., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Prepapillary vascular loops are a type of congenital vascular anomaly seen on or around the optic disk. Patients with this condition are usually asymptomatic and are detected incidentally on routine fundus examinations. Differential diagnosis for this condition includes neovascularization of the disk and collaterals on the disk. Prepapillary capillary loops are not associated with any systemic condition. They are usually unilateral in presentation, but can rarely be bilateral., Purpose: To discuss the new proposed classification of prepapillary capillary loops., Synopsis: : Prepapillary capillary loops are classified based on their location around the disk, loop characteristics such as elevation, shape, and covering, and presence of vitreoretinal traction., Highlights: The most common vascular loops are arterial in origin and rarely venous in origin. They can sometimes be associated with spontaneous and recurrent vitreous hemorrhage, branch retinal artery or vein occlusion, and subretinal hemorrhage. It is an important differential diagnosis in spontaneous vitreous hemorrhage. Treatment is symptomatic., Video Link: : https://youtu.be/gbq&#95;oP7Y2q4., Competing Interests: None

Avascular peripheral retina in an infant is a common characteristic of numerous pediatric retinal vascular disorders and often presents a diagnostic challenge to the clinician. In this review, key features of each disease in the differential diagnosis, from retinopathy of prematurity, familial exudative vitreoretinopathy, Coats disease, incontinentia pigmenti, Norrie disease, and persistent fetal vasculature, to other rare hematologic conditions and telomere disorders, will be discussed by expert ophthalmologists in the field., Competing Interests: Conflict of Interest: No conflict of interest was declared by the authors., (©Copyright 2023by Turkish Ophthalmological Association Turkish Journal of Ophthalmology, published by Galenos Publishing House.)

Purpose: Perifoveal exudative vascular anomalous complex (PEVAC) was initially described as an isolated aneurysmal lesion in healthy eyes. Similar aneurysmal abnormalities may occur in association with retinal vascular diseases such as diabetic retinopathy or retinal vein occlusions (PEVAC-resembling). The aim of this study was to compare several imaging characteristics of PEVAC and PEVAC-resembling lesions., Methods: Ten eyes with a PEVAC and 27 eyes with a PEVAC-resembling lesion were included in this cross-sectional study. They were all imaged with optical coherence tomography (OCT), OCT angiography (OCT-A) and colour fundus photography (CFP). Several clinical, morphological and vascular characteristics were assessed and compared between both PEVAC types., Results: All PEVAC lesions were unilateral, while PEVAC-resembling lesions appeared bilateral in 23% of patients (p > 0.05). Unilateral multifocal PEVAC-resembling lesions were more frequently observed (56%) than unilateral multifocal PEVAC lesions (10%, p < 0.01). Furthermore, 90% of the PEVAC lesions were located within 500 µm from the centre of the fovea, while this was only true for 56% of the PEVAC-resembling lesions (p > 0.05). No notable differences were observed in other studied characteristics., Conclusions: The clinical, morphological and vascular features of PEVAC and PEVAC-resembling lesions are similar based on multimodal imaging. Given the bilaterality and multifocality seen in PEVAC-resembling lesions, an underlying retinal vascular disease may stimulate the quantity of aneurysmal abnormalities. Due to the similarities with PEVAC-resembling lesions, PEVAC may also be considered a microangiopathy but with an unknown origin., (© 2020 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.)

Purpose: To analyze and classify neurofibromatosis Type 1 (NF1)-related retinal vascular abnormalities (RVAs), their natural history and correlation with disease severity, in a large cohort of patients., Methods: This was an observational longitudinal study with prospective enrollment. Four hundred and seventy-three patients affected by NF1 and 150 age-matched healthy subjects were consecutively enrolled. Retinal vascular abnormalities were detected by means of near-infrared reflectance and studied by optical coherence tomography angiography. The superficial vascular plexus and the deep vascular complex (DVC) were quantitatively and qualitatively analyzed., Results: We identified RVAs in 82 of 473 (17%) NF1 patients, but in none of the 150 healthy subjects. A comparison revealed that NF1 patients with RVAs showed a higher number of NF1 diagnostic criteria (4.3 ± 1.5 vs. 3.9 ±1.5, respectively; P = 0.02) than patients without RVAs. Three different RVA types were identified on optical coherence tomography angiography: macrovascular angiomatosis of the sole superficial vascular plexus; macrovascular angiomatosis of the superficial vascular plexus combined with microvascular angiomatosis of the deep vascular complex; and combined macrovascular angiomatosis of both superficial vascular plexus and deep vascular complex. The prospective analysis of optical coherence tomography angiography images showed no significant longitudinal evolution of RVAs (mean follow-up: 3.7 ± 2.8 years). A single patient developed a de novo single RVA, and two RVAs showed detectable changes during follow-up., Conclusion: In NF1 patients, RVAs are a characteristic sign that correlates with a more severe systemic disease expression, usually remaining stable during time. Optical coherence tomography angiography allows for the identification of different RVAs subtypes.

Purpose: To examine the retinal vascular findings on widefield fluorescein angiography (FA) in the fellow eyes of patients with unilateral persistent fetal vasculature (PFV)., Design: Retrospective case series., Participants: Consecutive patients with unilateral PFV evaluated by a single physician at an academic medical center from February 1, 2011, to November 30, 2018., Methods: Clinical and demographic information, including age, gender, race, ethnicity, affected eye, subtype, stalk origin, complications on presentation, length of follow-up, and examination findings, was reviewed using the electronic medical record. Fluorescein angiograms of the affected and fellow eyes were reviewed by 2 authors for characteristic retinal vascular abnormalities. Agreement between the authors' scores was analyzed using Cohen's Kappa., Main Outcome Measures: Fluorescein angiography abnormalities, including peripheral vessel avascularity, aberrant circumferential vessels, terminal supernumerary branching, regional capillary dropout, terminal bulbing, abnormal choroidal flush, abnormal vessel straightening, and peripheral vessel leakage or dilation., Results: Inclusion criteria were met by 41 patients. The average age at initial visit was 10.0 months. The average length of follow-up was 36.4 months. Abnormalities on FA were seen in 31 (75.6%) fellow eyes: peripheral vessel avascularity in 27.5 (67.1%), aberrant circumferential vessels in 20 (48.8%), terminal supernumerary branching in 17 (41.5%), regional capillary dropout in 9 (22.0%), terminal bulbing in 6 (14.6%), abnormal choroidal flush in 3.5 (8.5%), and abnormal vessel straightening and peripheral vessel leakage in 2.5 (6.1%). Statistical analysis disclosed an overall observed agreement of 93.4% among the raters (κ = 0.84, P < 0.0001)., Conclusions: Retinal vascular abnormalities seen in patients with unilateral PFV were present in the majority of fellow eyes. This suggests that unilateral PFV may in fact be a bilateral, asymmetric process, but the clinical significance of these subtle findings is not known., (Copyright © 2020 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To evaluate vortex vein engorgement and choroidal vascular hyperpermeability in patients with polypoidal choroidal vasculopathy (PCV) using ultra-widefield indocyanine green angiography (ICGA)., Methods: This retrospective case control study included 51 patients with unilateral PCV, 7 patients with bilateral PCV, and 43 age-matched controls. The number of quadrants of vortex vein engorgement was evaluated in the middle phase of ICGA, which was classified as extended engorgement if the dilated choroidal vessels expanded to the macula. The area of choroidal vascular hyperpermeability was quantified stereographically from the late-phase ICGA and correlated with clinical and optical coherence tomography findings., Results: Affected eyes had a larger choroidal hyperpermeability area and a thicker subfoveal choroid than eyes in the control group or fellow eyes (P < 0.001, P < 0.001). More quadrants with extended vortex vein engorgement were observed in affected eyes than in fellow eyes (P < 0.001). Significant differences were observed in the area of choroidal hyperpermeability, Haller layer thickness and greatest linear dimension according to the extended vortex vein engorgement in eyes with PCV (P < 0.001, P = 0.001, and P = 0.001, respectively). The area of choroidal hyperpermeability was significantly correlated with subfoveal choroidal thickness (P < 0.001, Pearson's correlation coefficient = 0.471)., Conclusions: Ultra-widefield ICGA results revealed that patients with PCV had vortex vein engorgement and an increased choroidal hyperpermeability area. The results from this study provide substantial information to clarify the pathogenesis and predict the prognosis in the patients with PCV.

Background/objectives: To analyze the ophthalmic characteristics of congenital prepapillary vascular loop (PVL) and to propose a new morphologic classification dividing the loops into six types., Subjects/methods: Collaborative multinational multicentre retrospective study of PVL cases., Results: There was a total of 49 cases (61 eyes), 37 unilateral (75.5%) and 12 bilateral (24.5%), 32 arterial type (65.3%) and 18 venous type (36.7%) (one patient had either kind in each eye). The mean number of loops per eye was 2.7 (range, 1-7). The loops were asymptomatic in 42 cases (85.7%). Other findings included: the presence of cilioretinal artery (14 cases), retinal vascular tortuosity (26 cases), amaurosis fugax (1 case), branch retinal artery occlusion (1 case) and vitreous haemorrhage (3 cases). Six morphologic loop types could be discerned based on elevation (flat vs. elevated), shape (figure of 8 or corkscrew with hyaline sheath), number (multiple or single), location (central or peripheral), lumen size (arterial vs. arteriolar) and presence of vascular tortuosity or vitreous traction., Conclusions: PVL are usually asymptomatic and can be divided into six morphologic types with different pathogenesis during early embryogenesis.

Purpose: To describe optical coherence tomography angiography (OCTA) findings in retinal arterial macroaneurysm (RAM) associated with macular edema and to correlate OCTA findings with conventional multimodal imaging., Methods: The clinical course, conventional multimodal imaging findings including fundus color photography, spectral domain optical coherence tomography (Spectralis; Heidelberg Engineering, Heidelberg, Germany), fluorescein angiography (Heidelberg Engineering), and OCTA (Optovue, Inc, Freemont, CA) findings at baseline and during the follow-up of two eyes (two patients) with symptomatic RAM associated with macular edema were documented., Results: Two eyes of 2 patients, both women, aged 82 and 46 years, which presented with progressive visual decline, were included. On conventional multimodal imaging, exudative RAM with macular edema and lipid exudation were visible in both included eyes. On OCTA, the flow in the two RAM was detected at baseline. Case 1 was treated by focal laser photocoagulation. One month after treatment, fluorescein angiography showed RAM occlusion. Spectral domain optical coherence tomography showed a RAM and retinal thinning and a decreased central foveal thickness, resulting in visual acuity improvement. On OCTA, no flow was detectable in the RAM at 1-month follow-up. Case 2 was not treated at baseline. In this eye, no flow was detected on OCTA at 2-month follow-up. This suggests a spontaneous occlusion, which was confirmed by fluorescein angiography., Conclusion: Optical coherence tomography angiography is able to detect the presence or absence of flow signal within RAMs, which may both decrease the need for dye angiography in selected cases with exudative RAM and help in treatment decision making.

Purpose: The hallmark of proliferative diabetic retinopathy (PDR) is retinal neovascularization. Tortuous intraretinal vascular segments known as intraretinal microvascular abnormalities (IRMAs) are a known risk factor for neovascularization (NV), but whether IRMA represents a biomarker or a vascular precursor lesion to NV has not been demonstrated. The purpose of this study was to determine whether IRMA may evolve directly into NV., Design: Retrospective analysis of prospective, observational case series., Participants: Patients with treatment-naïve PDR., Methods: Patients were imaged longitudinally with fluorescein angiography (FA) and swept-source (SS) OCT angiography (OCTA) before and after panretinal photocoagulation (PRP)., Main Outcome Measures: Presence and colocalization of IRMA and NV on serial FA and SS OCTA., Results: Two PDR patients showed multiple NV and IRMA lesions at baseline examination. Three months after PRP, FA demonstrated profuse leakage from 3 new NV lesions in one patient and 1 new NV lesion in another patient. Multimodal imaging showed that these 4 lesions were IRMAs at baseline. Swept-source OCTA performed before PRP and 1 week, 1 month, and 3 months after PRP confirmed that the precursor IRMA lesions were intraretinal tortuous vascular lesions at baseline and that they developed into preretinal NV with contiguous intraretinal components. NV was found to develop and adhere to the posterior hyaloid even in areas of pre-existing hyaloidal detachment., Conclusions: Diabetic retinal NV can develop from IRMA. Early identification of IRMAs may be an accurate means of predicting progression to PDR, and frequent monitoring of IRMAs with SS OCTA may facilitate early diagnosis of PDR., (Copyright © 2020 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)

Purpose: To explore the regional distribution of macular neovascularization type 3 (MNV3)., Methods: Seventy-eight eyes of 78 patients were reviewed. We defined the location of each lesion after applying a modified ETDRS grid and the incidence of simultaneous MNV1 or 2. Also, we investigated the distribution of MNV3 at the outline of the foveal avascular zone and when the diameter of foveal avascular zone was less than 325 µm., Results: The distribution of MNV3 was 4 lesions (5%) from the center to 500 µm, 72 (92%) from 500 µm to 1500 µm, and 2 (3%) from 1,500 µm to 3000 µm. The distribution in respect of the ETDRS fields was 7 (9%) nasal, 16 (20%) superior, 32 (40%) temporal, and 23 (31%) inferior. No additional MNV1 or 2 were found elsewhere. Most lesions tended to distribute along straight bands radiating from the perifoveal area, mainly in the temporal half (72%). None of the cases had MNV3 at the boundary of the foveal avascular zone. Only five cases had foveal avascular zone diameter of less than 325 µm, the closest lesion was 425 µm away from the center., Conclusion: MNV3 lesions are most likely neither symmetrical nor uniformly distributed. They have a higher affinity to distribute radially in the temporal perifoveal area.

Competing Interests: None

Rationale: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disease caused by mutations in ENG , ALK1 , or SMAD4 . Since proteins from all 3 HHT genes are components of signal transduction of TGF-β (transforming growth factor β) family members, it has been hypothesized that HHT is a disease caused by defects in the ENG-ALK1-SMAD4 linear signaling. However, in vivo evidence supporting this hypothesis is scarce., Objective: We tested this hypothesis and investigated the therapeutic effects and potential risks of induced-ALK1 or -ENG overexpression (OE) for HHT., Methods and Results: We generated a novel mouse allele (ROSA26 Alk1 ) in which HA (human influenza hemagglutinin)-tagged ALK1 and bicistronic eGFP expression are induced by Cre activity. We examined whether ALK1-OE using the ROSA26 Alk1 allele could suppress the development of arteriovenous malformations (AVMs) in wounded adult skin and developing retinas of Alk1 - and Eng -inducible knockout (iKO) mice. We also used a similar approach to investigate whether ENG-OE could rescue AVMs. Biochemical and immunofluorescence analyses confirmed the Cre-dependent OE of the ALK1-HA transgene. We could not detect any pathological signs in ALK1-OE mice up to 3 months after induction. ALK1-OE prevented the development of retinal AVMs and wound-induced skin AVMs in Eng -iKO as well as Alk1 -iKO mice. ALK1-OE normalized expression of SMAD and NOTCH target genes in ENG-deficient endothelial cells (ECs) and restored the effect of BMP9 (bone morphogenetic protein 9) on suppression of phosphor-AKT levels in these endothelial cells. On the other hand, ENG-OE could not inhibit the AVM development in Alk1 -iKO models., Conclusions: These data support the notion that ENG and ALK1 form a linear signaling pathway for the formation of a proper arteriovenous network during angiogenesis. We suggest that ALK1 OE or activation can be an effective therapeutic strategy for HHT. Further research is required to study whether this therapy could be translated into treatment for humans.

Background and Objective: To describe peripheral retinal vascular abnormalities in the contralateral eyes of patients with unilateral persistent fetal vasculature (PFV)., Patients and Methods: Retrospective medical record review of fluorescein angiography (FA) findings of patients with unilateral PFV. Width of the temporal peripheral avascular retina in contralateral eyes was measured in disc diameters (DD). Vascular abnormalities were described., Results: In 45 included patients, mean width of temporal peripheral avascular areas in contralateral eyes was 1.87 ± 0.71 DD. Forty-three patients (95.6%) had temporal peripheral avascular areas of 1 DD or greater in contralateral eyes, with 16 having temporal peripheral avascular areas of 2 DD or greater. Vessel shunts, vascular tortuosity and dilatation, circumferential vessels, and abnormal capillary beds in the peripheral retina were observed in 23 (51.1%) contralateral eyes of patients with unilateral PFV., Conclusion: PFV patients should undergo careful evaluations of both eyes, preferably with FA, to identify vascular changes that are not visible clinically. [Ophthalmic Surg Lasers Imaging Retina. 2020;51:506-511.]., (Copyright 2020, SLACK Incorporated.)

Purpose: To describe modern multimodal imaging of the choroidal and optic disk vessels in optic disk pits., Methods: Case reports of four patients with optic disk pit who underwent multimodal imaging of the optic pit and surrounding structures. Patients included in this article were found to have optic disk pits and subsequently underwent multimodal imaging., Results: Cilioretinal arteries were present in two of the four cases (50%). SPECTRALIS optical coherence tomography showed intraretinal and subretinal fluid in all cases. Small vessels in the choroid and in the disk around the pit were also present in all cases through optical coherence tomographic angiography. Confocal fluorescein angiographic imaging in the first case showed leakage from the vessels adjacent to the optic disk pit., Conclusion: Modern multimodal imaging shows that there are anomalous vessels in and around an optic pit. Whether these vessels affect the development of optic pit, maculopathy needs to be further evaluated.

The aim of this cross-sectional study was to investigate congenital abnormalities of the retinal vasculature (CARVs) in patients with neurofibromatosis type I (NF-1). Forty-eight patients (96 eyes) with NF-1 diagnosed according to the National Institutes of Health (NIH) criteria and 48 healthy controls were included in this study. Standard fundus photographs were obtained for each subject to evaluate the presence and frequency of CARVs. The sensitivity, specificity, and diagnostic accuracy of different cut-off numbers of CARVs were compared with those of the NIH criteria. Forty-four (91.7%) patients in the NF-1 group demonstrated either supranumeraty optic disc vessels or triple branching of the retinal vasculature, and 22 patients (45.8%) demonstrated both findings. The frequencies of these two CARVs were significantly different between the two groups (p < 0.00001). A cut-off value of either one for supranumerary optic disc vessels or triple branching showed the highest accuracy along with sensitivity and specificity of 91.7% and 87.5%. CARVs such as supranumerary optic disc vessels or triple branching were frequently observed in NF-1 patients, and their occurrence was unrelated to the age of patients. Thus, these CARVs could be added as new ophthalmologic manifestions for NF-1 and may potentially enable early diagnosis of NF-1.

Background: The traditional view is that there are no vessels in the foveal avascular zone. The two cases we report show microvessels crossing the foveal avascular zone., Case Presentation: A man and a woman, both 25 years old, were both incidentally found on optical coherence tomography angiography (OCTA) to have unilateral aberrant microvessels crossing the foveal avascular zone in their left eyes. Visual acuity was preserved in both patients. The vessel density (VD) and perfusion density (PD) of the eyes with the aberrant microvessels were all higher than those of the contralateral eyes. Nevertheless, measurements of foveal avascular zone (FAZ) dimensions, including its area, perimeter and circularity, were smaller in the left eyes than in the right eyes. No complications were recorded., Conclusions: To date, aberrant microvessels crossing the foveal avascular zone have not been found to impair visual function. OCTA is a non-invasive and quick method that does not require dilation or the use of fluorescein dye. It is a reliable tool for the detection of aberrant microvessels crossing the foveal avascular zone.

Purpose of Review: The aim of this study to is report the findings of a systemic review and meta-analysis of the literature on the association between retinal vascular caliber and cardiovascular diseases., Recent Findings: The caliber of retinal vessels has been recognized as an important biomarker for risk stratification in various cardiovascular diseases, such as coronary artery disease, heart failure, stroke, and mortality. Non-invasively quantifying retinal vasculature may be useful in screening individuals who are at risk of cardiovascular disease. Further evaluating the role of retinal vessel anatomy and incorporating it into a scoring system on risk of cardiovascular diseases are needed in future studies.

Purpose: To investigate the characteristics of intraretinal microvascular abnormalities (IRMAs) before and after panretinal photocoagulation (PRP) for diabetic retinopathy (DR) by using optical coherence tomography angiography (OCTA)., Methods: Forty-six eyes of 29 patients with DR were included (26 eyes with severe nonproliferative diabetic retinopathy [SNPDR] and 20 eyes with proliferative diabetic retinopathy [PDR]). En face OCTA images of IRMAs in a 6 × 6-mm area were acquired by using Cirrus 5000 with AngioPlex. The morphological changes in IRMAs were evaluated before and after PRP. The changes in the IRMAs were divided into five subtypes: unchanged; tuft regression; reperfusion; mixed (combined tuft regression/reperfusion); and worsening (new appearance of tuft)., Results: Unchanged IRMAs were identified in 15 SNPDR eyes and 2 PDR eyes; all neovascularization (NV) had regressed after PRP. Tufts were more frequently observed in the PDR eyes (15/20, 75%) than in the SNPDR eyes (8/26, 31%) (P = 0.003), and two tufts tended to exceed the inner limiting membrane, which showed progression to NV before PRP. The reperfusion phenomenon was observed in 7/26 SNPDR eyes and 4/20 PDR eyes, including the mixed type, and showed two vascular patterns: abnormal (dilated, tortuous, and twisted) and normal vessels. The worsening type was observed in 1/26 SNPDR eye and 2/20 PDR eyes., Conclusions: OCTA enabled classification of IRMA into more detailed types. The unchanged and reperfusion types suggested that IRMAs had aspects of remodeling. However, IRMAs with tufts were observed in 75% of the PDR eyes, and the tufts had aspects of NV.

Purpose: To characterize structural and angiographic findings in macular telangiectasia Type 2 (MacTel 2) and examine associations with visual acuity., Methods: MacTel 2 patients with complete ophthalmologic examination, including fundus photography, autofluorescence, spectral-domain optical coherence tomography, and projection-resolved optical coherence tomography angiography, were retrospectively evaluated., Results: There were 43 eyes of 22 patients with a mean age 63.9 (±10.3) years. Six patients had diabetes. Twenty-one eyes (48.8%) had retinal-choroidal anastomoses (RCAs) without any evidence of neovascularization extending laterally in a plane above or below the retinal pigment epithelium. None of the eyes had hemorrhage, lipid, or signs of subretinal exudation. When present, an average of 55 (±33.7) individual RCAs were clustered primarily in temporal juxtafoveal region of involved eyes. Right-angle veins were seen in all 21 eyes with RCAs, and hyperpigmentation was present in 18 (P < 0.001 for both). A conical collection of hyperreflective material spanning from Bruch membrane past external limiting membrane of ≥200-μm basal diameter was found in 21 eyes and labeled outer retinal hyperreflective lesion. Retinal-choroidal anastomoses occurred in clusters, often within the outer retinal hyperreflective lesion. This lesion colocalized with focal thinning of the outer nuclear layer and was surrounded by a larger defect in the ellipsoid zone. The presence of diabetes (P = 0.015), outer retinal hyperreflective lesion (P = 0.006), RCA (P = 0.005), and ellipsoid zone defect extent (P < 0.001) were associated with decreased visual acuity., Conclusion: Retinal-choroidal anastomoses occur in eyes with MacTel 2 without signs of exudation. Retinal-choroidal anastomoses occur in numerous clusters particularly in the temporal juxtafoveal macula. Diabetes, ellipsoid zone defect extent, RCAs, and the outer retinal hyperreflective lesion predict poorer vision in MacTel 2.

Purpose: To report a series of eight patients with perifoveal exudative vascular anomalous complex imaged with optical coherence tomography angiography and the results of anti-vascular endothelial growth factor therapy or laser photocoagulation., Methods: Retrospective analysis of demographic data, imaging including color pictures, spectral domain optical coherence tomography, and optical coherence tomography angiography, and fluorescein angiography, course, and outcome., Results: Age at onset ranged from 45 to 84 years (mean ± SD: 68.6 ± 13.7). Five cases were initially misdiagnosed. The perifoveal exudative vascular anomalous complex lesion was unique in seven eyes and located predominantly in the superficial capillary plexus in two eyes, strictly in the deep capillary plexus in two eyes, but observed at the level of both plexi (3 eyes). One patient presented two lesions, one in the superficial capillary plexus and one in the deep capillary plexus. Capillary rarefaction was observed around the lesion in six eyes. Sustainable resolution of exudation could be achieved in 2 patients, one after 2 sessions of focal thermal laser photocoagulation and one after 13 intravitreal injections of anti-vascular endothelial growth factor., Conclusion: The present series confirms that perifoveal exudative vascular anomalous complex corresponds to a new entity that differs from other conditions associated with capillary aneurysmal lesions. Visual improvement could be obtained after treatment with focal laser or intravitreal anti-vascular endothelial growth factor agents.

Objective: The retina may provide readily accessible imaging biomarkers of global cardiovascular health. Increasing evidence suggests variation in retinal vascular traits is highly heritable. This study aimed to identify the genetic determinants of retinal vascular traits. Approach and Results: We conducted a meta-analysis of genome-wide association studies for quantitative retinal vascular traits derived using semi-automatic image analysis of digital retinal photographs from the GoDARTS (Genetics of Diabetes Audit and Research in Tayside; N=1736) and ORCADES (Orkney Complex Disease Study; N=1358) cohorts. We identified a novel genome-wide significant locus at 19q13 ( ACTN4/CAPN12 ) for retinal venular tortuosity ( TortV ), and one at 13q34 ( COL4A2 ) for retinal arteriolar tortuosity ( TortA ); these 2 loci were subsequently confirmed in 3 independent cohorts (N total =1413). In the combined analysis of discovery and replication cohorts, the lead single-nucleotide polymorphism in ACTN4 / CAPN12 was rs1808382 (β s.d. =-0.109; SE=0.015; P =2.39×10- 13 ) and in COL4A2 was rs7991229 (β s.d. =0.103; SE=0.015; P =4.66×10- 12 ). Notably, the ACTN4 / CAPN12 locus associated with TortV is also associated with coronary artery disease, heart rate, and atrial fibrillation., Conclusions: Genetic determinants of retinal vascular tortuosity are also linked to cardiovascular health. These findings provide a molecular pathophysiological foundation for the use of retinal vascular traits as biomarkers for cardiovascular diseases.

Competing Interests: None

Perifoveal exudative anomalous complex (PEVAC) is an uncommon entity that occurs in isolation or in association with retinal vascular disorders. The authors describe a case of a 47-year-old man presenting with a central scotoma in the left eye found to have an isolated PEVAC. Fundus photography, optical coherence tomography (OCT), and intravenous fluorescein angiography were collected. OCT angiography of the lesion revealed suspended scattered particles in motion, a newly described finding in exudative macular retinopathies. The authors describe the first case of PEVAC with angiographic evidence of suspended scattered particles in motion. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:796-800.]., (Copyright 2019, SLACK Incorporated.)

When encountering patients with markedly dilated and tortuous retinal vessels, Wyburn-Mason syndrome (WMS) or racemous angiomatosis (phacomatosis) is commonly thought of as the archetypal entity that can produce these findings. We describe a patient with Cantu syndrome with phenotypical findings identical to those seen in patients with WMS and want to highlight this as another entity that can present with tortuous and dilated retinal vessels.

Competing Interests: There are no conflicts of interest.

Purpose: Diabetic retinopathy is characterized by disturbances in retinal blood flow mediated by capillary occlusion, intraretinal microvascular abnormalities (IRMAs), neovascularizations, and omega loops and reduplications. It is likely that the study of oxygen saturation in these abnormalities can provide knowledge about their role in the development of diabetic retinopathy., Methods: The oxygen saturation in IRMA vessels and venous loops and reduplications were studied in 40 diabetic patients with severe nonproliferative or proliferative diabetic retinopathy. The saturation values in the studied vascular abnormalities were compared to those of the larger retinal arterioles and venules., Results: There was a similar oxygen saturation (mean ± SD) in IRMAs observed to connect arterioles with venules (78.6% ± 11.8%, n = 22) and IRMAs connecting venules with venules (79.2% ± 9.0%, n = 12; P > 0.999). The saturation in IRMAs was significantly lower (P < 0.0002) than in arterioles (97.4% ± 5.2%, n = 40) and significantly higher (P < 0.0001) than the saturation in omega loops and reduplications (54.2% ± 19.3%, n = 6), which in turn showed no significant difference from the saturation in the venules (61.8% ± 6.8%, n = 40, P = 0.4)., Conclusions: The findings suggest that the oxygen saturation in vascular abnormalities in diabetic retinopathy depends on the extent of arteriovenous (A-V) shunting, with venous saturation due to no A-V shunting in venous loops and reduplications, and intermediate oxygen saturation due to moderate shunting in IRMAs. This may precede the development of neovascularizations with arterial oxygen saturation due to high A-V shunting.

Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report of Fabry disease highlighting the importance of ocular signs as markers of the disease, useful in diagnosis and treatment to avoid long-term complications that lead to a morbi-mortality increment. We describe five cases of Fabry disease from Bogotá, Colombia, including a complete clinical history, ophthalmologic, optometric examination, and photographs. We found that all patients had refractive defects and that in all cases corneal verticillata pattern was found. Four patients presented with posterior capsule lens brown-beige deposits and four patients had conjunctival and retinal tortuous vessels. A complete ophthalmologic examination is important for prompt diagnosis, which is key to starting a multidisciplinary treatment and reducing morbi-mortality.

We report the case of a 13-year-old patient who complains of an acute superior visual field scotoma in the last 48hours. Best corrected visual acuity (BCVA) was 20/20 in both eyes. The right eye fundus examination revealed torsion of a prepapillary loop in the inferior branch of the retinal artery, associated with a arterial vascular attenuation and whitenning of the inferior retina that involved both nasal and temporal branches but spared the foveal region. During the follow-up the vascular loop dissapeared and only glial tissue was seen in front of the optic nerve head. BCVA remained 20/20 in both eyes. This report shows the evolution of the vascular loop after an occlusion. The absence of blood flow produces a collapse of the arterial walls, in time the vascular loop is replaced by glial tissue., (Copyright © 2019 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)