Exudative Retinopathy Research Articles

Vitreoretinal Surgery in Familial Exudative Vitreoretinopathy

Familial exudative retinopathy(FEVR) is a hereditary vitreoretinal disorder characterized by anomalous retinal angiogenesis. Incomplete peripheral retinal vascularization and subsequent retinal ischemia are the hallmark features of FEVR, which can cause various types of retinal detachment. The development of retinal detachment is %21-64 of the cases. The aim of this study is to summarize the treatment methods applied to different types of detachments occuring in FEVR.

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report.

Coats-like Exudative Retinopathy in a Patient with Joubert Syndrome with CEP290 Mutation: A Case Report.

Visual Outcomes in Malignant Hypertensive Retinopathy Cases: A Clinical and Spectral Domain Optical Coherence Tomography Study.

Objective The objective is to correlate visual outcomes in malignant hypertensive retinopathy with changes in systemic causative factors and spectral domain optical coherence tomography (SD OCT) morphologic parameters. Materials and methods This is a prospective observational study including patients presenting within two weeks of acute rise of systolic blood pressure (SBP) ≥ 180 mm Hg or diastolic blood pressure (DBP) ≥ 120 mm Hg and with posterior segment involvement in both eyes. Baseline SBP, DBP, mean arterial pressure (MAP), best corrected visual acuity (BCVA), and SD OCT parameters such as central macular thickness (CMT), subfoveal choroidal thickness (SCT), and sub-retinal fluid (SRF) height were measured at presentation and followed monthly up to three months. These variables at baseline and three months were compared and correlated. Results Thirty-three patients (66 eyes) having malignant hypertension were included in the study. Diverse clinical presentations noted among patients were optic disc edema, hard exudates in the macula, peripapillary splinter hemorrhage, cotton wool spots, Elschnig spots, exudative retinal detachment, optic neuropathy, and severe exudative retinopathy. SD OCTshows hyperreflective dots and intraretinal fluid with or without SRF.At three months, the mean SBP, DBP, MAP, CMT, SRF, and SCT all decreased significantly from baseline (p<0.001). Changes in SBP, DBP, MAP, and SCT correlated significantly with changes in BCVA (p<0.001). Conclusion In malignant hypertensive retinopathy, macular edema with SRF is the major cause of mild-to-moderate decrease BCVA at presentation, but macular ischemia, exudative RD, and optic neuropathy can cause a significant decrease in vision. A decrease in SBP, DBP, MAP, and SCT correlatesignificantly with visual outcomes.

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.

Vessels characteristics in familial exudative vitreoretinopathy and retinopathy of prematurity based on deep convolutional neural networks.

The purpose of this study was to investigate the quantitative retinal vascular morphological characteristics of Retinopathy of Prematurity (ROP) and Familial Exudative Vitreoretinopathy (FEVR) in the newborn by the application of a deep learning network with artificial intelligence. Standard 130-degree fundus photographs centered on the optic disc were taken in the newborns. The deep learning network provided segmentation of the retinal vessels and the optic disc (OD). Based on the vessel segmentation, the vascular morphological characteristics, including avascular area, vessel angle, vessel density, fractal dimension (FD), and tortuosity, were automatically evaluated. 201 eyes of FEVR, 289 eyes of ROP, and 195 eyes of healthy individuals were included in this study. The deep learning system of blood vessel segmentation had a sensitivity of 72% and a specificity of 99%. The vessel angle in the FEVR group was significantly smaller than that in the normal group and ROP group (37.43 ± 5.43 vs. 39.40 ± 5.61, 39.50 ± 5.58, P = 0.001, < 0.001 respectively). The normal group had the lowest vessel density, the ROP group was in between, and the FEVR group had the highest (2.64 ± 0.85, 2.97 ± 0.92, 3.37 ± 0.88 respectively). The FD was smaller in controls than in the FEVR and ROP groups (0.984 ± 0.039, 1.018 ± 0.039 and 1.016 ± 0.044 respectively, P < 0.001). The ROP group had the most tortuous vessels, while the FEVR group had the stiffest vessels, the controls were in the middle (11.61 ± 3.17, 8.37 ± 2.33 and 7.72 ± 1.57 respectively, P < 0.001). The deep learning technology used in this study has good performance in the quantitative analysis of vascular morphological characteristics in fundus photography. Vascular morphology was different in the newborns of FEVR and ROP compared to healthy individuals, which showed great clinical value for the differential diagnosis of ROP and FEVR.

Intravitreal injection of fibrillin 2 (Fbn2) recombinant protein for therapy of retinopathy in a retina-specific Fbn2 knock-down mouse model

Mutations in the extracellular matrix gene Fibrillin-2 (FBN2) are related to genetic macular degenerative disorders including age-related macular degeneration (AMD) and early-onset macular degeneration (EOMD). It was reported that the retinal protein expression of FBN2 was reduced in patients with AMD and EOMD. The effect of exogenously supplied fbn2 recombinant protein on fbn2-deficiency-related retinopathy was not known. Here we investigated the efficacy and molecular mechanism of intravitreally applied fibrin-2 recombinant protein in mice with fbn2-deficient retinopathy. The experimental study included groups (all n = 9) of adult C57BL/6J male mice which underwent no intervention, intravitreal injection of adeno-associated virus (AAV) empty vector or intravitreal injection of AAV-sh-fbn2 (adeno-associated virus for expressing short hairpin RNA for fibrillin-2) followed by three intravitreal injections of fbn2 recombinant protein, given in intervals of 8 days in doses of 0.30 μg, 0.75 μg, 1.50 μg, and 3.00 μg, respectively. Eyes with intravitreally applied AAV-sh-fbn2 as compared to eyes with injection of AAV-empty vector or developed an exudative retinopathy with involvement of the deep retinal layers, reduction in axial length and reduction in ERG amplitudes. After additional and repeated application of fbn2 recombinant protein, the retinopathy improved with an increase in retinal thickness and ERG amplitude, the mRNA and protein expression of transforming growth factor-beta (TGF-β1) and TGF-β binding protein (LTBP-1) increased, and axial length elongated, with the difference most marked for the dose of 0.75 μg of fbn2 recombinant protein. The observations suggest that intravitreally applied fbn2 recombinant protein reversed the retinopathy caused by an fbn2 knockdown.

Quantitative Analysis of Vascular Abnormalities in Full-Term Infants With Mild Familial Exudative Vitreoretinopathy.

Our goal was to build a system that combined deep convolutional neural networks (DCNNs) and feature extraction algorithms, which automatically extracted and quantified vascular abnormalities in posterior pole retinal images of full-term infants clinically diagnosed with mild familial exudative retinopathy (FEVR). Using posterior pole retinal images taken from 4628 full-term infants with a total of 9256 eyes, we created data sets, trained DCNNs, and performed tests and comparisons. With the segmented images, our system extracted peripapillary vascular densities, mean tortuosities, and maximum diameter ratios within the region of interest. We also compared them with normal eyes statistically. In the test data set, the trained system obtained a sensitivity of 0.78 and a specificity of 0.98 for vascular segmentation, with 0.94 and 0.99 for optic disc, respectively. While in the comparison data set, compared with normal, we found a significant increase in vascular densities in retinal images with mild FEVR (5.3211%±0.7600% vs. 4.5998% ± 0.6586%) and a significant increase in the maximum diameter ratios (1.8805 ± 0.3197 vs. 1.5087 ± 0.2877), while the mean tortuosities significantly decreased (2.1018 ± 0.2933 [104 cm-3] vs. 3.3344 ± 0.3890 [104 cm-3]). All values were statistically significantly different. Our system could automatically segment the posterior pole retinal images and extract from vascular features associated with mild FEVR. Quantitative analysis of these parameters may help ophthalmologists in the early detection of FEVR. This system may contribute to the early detection of FEVR and facilitate the promotion of artificial intelligence-assisted diagnostic techniques in clinical applications.

Foveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity

There has been limited research regarding the status of foveal hypoplasia and the characteristics of the optical components of the eye in patients with familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP). In this retrospective cohort study, patients were classified into five groups: patients with stage 1 and 2 FEVR (FEVR group), patients with ROP who received treatment (treated ROP group), patients with ROP who did not receive treatment (untreated ROP group), patients without ROP who had been born preterm (preterm group), and healthy patients who had been born at term (full-term group). Visual acuity, refractive error, characteristics of the optical components, and features of the fovea were compared. In total, 179 eyes from 100 patients were included. Patients in the FEVR group had the highest degrees of myopia (p < 0.001). The axial length of patients in the FEVR group was significantly longer than that of patients in the treated and untreated ROP, preterm, and full-term groups (p < 0.001, p < 0.001, p = 0.001, and p = 0.003, respectively). Patients in the FEVR group had a higher proportion of grade 4 foveal hypoplasia and thinner foveae than those in the other groups (p < 0.001). Patients with FEVR had significantly greater myopic change than patients with ROP; the significantly longer axial length of the FEVR group might be the reason for the greater myopic change and lesser macular thickness. Patients in the FEVR group had more foveal hypoplasia than those in the other groups.

Neovascular Glaucoma in Children: A case series and a review of the literature.

To study the uncommon causes and treatment options for neovascular glaucoma in children. A review of the literature on neovascular glaucoma in children was conducted and we present three cases of neovascular glaucoma in children. We present three cases of neovascular glaucoma: two cases were secondary to a retinal vasoproliferative tumor-one to neurofibromatosis type 1 and the other to exudative retinopathy secondary to mild retinopathy of prematurity-and one case was secondary to a central retina vein occlusion secondary to an optic nerve glioma. Vision in the affected eye was severely impaired in all the children. The diagnosis and treatment of neovascular glaucoma in children is challenging and often a complication of a systemic or late-stage ocular condition. An appropriate diagnosis and estimation of the visual potential are essential to determine the correct treatment, especially in young children.

Rhegmatogenous retinal detachment in Coats\u2019 disease: a case report

BackgroundCoats’ disease was originally defined as a unilateral idiopathic exudative retinopathy in young males, characterized by abnormal retinal vascular telangiectasia with intraretinal and subretinal lipid exudation. The retinal detachment is usually exudative. Herein, we describe a case of rhegmatogenous retinal detachment with detectable retinal break in a patient with Coats’ disease.Case presentationA 15-year-old Indo-Aryan male patient presented with sudden painless diminution of vision in his right eye of 4 days duration. Upon examination, the anterior segment in both eyes and left fundus was within normal limits. Dilated fundus evaluation of the right eye revealed telangiectasia of the retinal vessels, with subretinal exudation in superotemporal and superonasal quadrants and presence of subretinal fluid in the superotemporal area extending into fovea. There was also presence of single flap horseshoe tear in the superotemporal quadrant at around the 10 o’clock position in the equatorial region, with no secondary changes. The retina was reattached with encircling band buckle combined with vitrectomy and silicon oil tamponade. Seven months post vitrectomy, lenticular opacification developed, for which he underwent silicon oil removal, along with lens aspiration and implantation of foldable intraocular lens. Over the period of 1 year, his best corrected visual acuity improved from 6/60 to 6/18 in the affected eye at the last follow-up visit. The recovery was uneventful following the subsequent surgery.ConclusionCoats’ disease has a remarkable diversity in clinical presentation and morphology. The disease can also present with an underlying break, which may not be attributed to any iatrogenic modality. The treatment modalities in coats’ disease should be tailored individually due to the low incidence of the disease and the great variation in severity upon presentation. Prompt management restores the best possible anatomical outcome and maintains good vision.

A case of bilateral pachychoroid disease: polypoidal choroidal vasculopathy in one eye and peripheral exudative hemorrhagic chorioretinopathy in contralateral eye

BackgroundWe report a case of bilateral pachychoroid disease manifesting polypoidal choroidal vasculopathy (PCV) with punctate hyperfluorescent spot (PHS) in one eye, and peripheral exudative hemorrhagic choroidal retinopathy (PEHCR) with central serous chorioretinopathy (CSC) and PHS in the contralateral eye.Case presentation: A 51-year-old healthy woman presented with complaint of blurred vision in her right eye. Corrected visual acuity was 20/20 in the right and 24/20 in the left eye. Fundus examination was normal in the left eye. In the right eye, fundus finding of an orange-red nodular lesion and optical coherence tomography (OCT) finding of polypoidal lesions led to a diagnosis of PCV. Four aflibercept intravitreal injections were performed in her right eye. After treatment, indocyanine green angiography (ICGA) confirmed residual polypoidal lesions with branching vascular networks and PHS with choroidal vascular hyperpermeability. OCT showed PHS associated with small sharp-peaked retinal pigment epithelium (RPE) elevation in peripheral fundus and small RPE elevation in posterior fundus. Based on the above findings, PCV with PHS was finally diagnosed in the right eye. Posttreatment corrected visual acuity in the right eye was 20/20. She presented again 32 months later, with complaint of vision loss in her left eye. Left corrected visual acuity was 20/20, and fundus examination showed mild vitreous hemorrhage. Vitrectomy was performed. In temporal midperipheral fundus, fluorescein angiography revealed CSC, and OCT showed pachychoroid. ICGA depicted abnormal choroidal networks and PHS in peripheral fundus. Furthermore, polypoidal lesions were confirmed by OCT. Based on the above findings, PEHCR and CSC with PHS was finally diagnosed in the left eye. Postoperative corrected visual acuity in the left eye was 20/20, and aflibercept intravitreal injection was performed for prevention of recurrence of vitreous hemorrhage.ConclusionsThis is the first case report of PCV with PHS in one eye, and PEHCR with CSC and PHS in the contralateral eye. This case suggests that PCV, PEHCR, and CSC may be linked pathologies of pachychoroid spectrum disease.

Diffuse infiltrating retinoblastoma: A diagnostic conundrum

Diffuse infiltrating retinoblastoma (DIR) is characterized by absence of intraocular mass, lack of calcification. It may mimic inflammatory uveitis or exudative retinopathy. An eight-years-old boy presented with progressive loss of vision in left eye. Clinical evaluation revealed neovascular glaucoma with a yellow–gray fundal glow, exudative retinal detachment, subretinal exudation and telangiectatic vessels. The presentation was consistent with exudative retinopathy (Coat’s disease) but for the presence of a family history of retinoblastoma in the younger sibling. Despite the absence of an intraocular mass or calcification on multimodal imaging, the enucleation was done on the basis of clinical suspicion of retinoblastoma. Histopathology confirmed a diagnosis of DIR.: DIR can pose a diagnostic challenge due to its non-characteristic clinical and imaging features and atypical presentation. A high index of suspicion along with a positive family history was key to diagnosis in our case; histopathology was confirmatory.

Exudative hemorrhagic retinopathy related to all-trans retinoic acid differentiation syndrome in a patient with acute promyelocytic leukemia.

Exudative hemorrhagic retinopathy related to all-trans retinoic acid differentiation syndrome in a patient with acute promyelocytic leukemia.

Von Hippel-Lindau Disease and the Eye.

Retinal hemangioblastoma (also referred to as retinal capillary hemangioma) is a benign lesion originating from the endothelial and glial components of the neurosensory retina and optic nerve head. Historically known as a manifestation of the von Hippel-Lindau (VHL) disease, it can be seen as an isolated finding or in association with some rare ocular conditions. In addition to characteristic ophthalmoscopic features, results of numerous ancillary tests including angiography, ultrasound, optical coherence tomography, and genetic tests may support the diagnosis and differentiate it from similar conditions. Because of serious life-threatening complications of VHL disease, every ocular approach to retinal hemangioblastomas should be in relationship with additional multidisciplinary diagnostic and therapeutic efforts. In addition, any patient with actual or probable diagnosis of VHL disease should be screened for ocular involvement. Unfavorable visual loss can occur early, and ocular complications of VHL range from exudative retinopathy to tractional retinal detachment, neovascular glaucoma, and phthisis bulbi. Accordingly, various treatment methods have been tested with overall acceptable responses, including photocoagulation, cryotherapy, photodynamic therapy, plaque radiotherapy, vitrectomy, and more novel intravitreal injections of anti-vascular endothelial growth factors and propranolol.

Toward the Clinical Application of Therapeutic Angiogenesis Against Pediatric Ischemic Retinopathy.

Therapeutic angiogenesis refers to strategies of inducing angiogenesis to treat diseases involving ischemic conditions. Historically, most attempts and achievements have been related to coronary and peripheral artery diseases. In this review, we propose the clinical application of therapeutic angiogenesis for the treatment of pediatric ischemic retinopathy, including retinopathy of prematurity, familial exudative retinopathy, and NDP-related retinopathy. These diseases are all characterized by the reduction of physiological angiogenesis and the following induction of pathological angiogenesis. Therapeutic angiogenesis, which supplements insufficient physiological angiogenesis, may be a therapeutic approach for ischemic conditions. Various molecules and modalities can be utilized to apply therapeutic angiogenesis for the treatment of ischemic retinopathy, as in coronary and peripheral artery diseases. Experiences with cardiovascular diseases provide a useful reference for the further clinical application of therapeutic angiogenesis in pediatric ischemic retinopathy. Recombinant proteins and gene therapy are powerful tools to deliver angiogenic factors to retinal tissues directly. Furthermore, endothelial progenitor or bone marrow-derived cells can be injected into the vitreous cavity of the eye for therapeutic angiogenesis. Intraocular injections are highly promising for the delivery of therapeutics for therapeutic angiogenesis. We expect that therapeutic angiogenesis will be a breakthrough in the treatment of pediatric ischemic retinopathy.

Unusual Treatment Response to Aflibercept, after Ranibizumab Treatment Failure, in Peripheral Exudative Haemorrhagic Retinopathy

Unusual Treatment Response to Aflibercept, after Ranibizumab Treatment Failure, in Peripheral Exudative Haemorrhagic Retinopathy

Late exudative retinopathy after laser treatment for retinopathy of prematurity in a child with dyskeratosis congenita

Exudative retinopathy may be a manifestation of a variety of isolated ocular or systemic diseases in children. We report the case of a teenager with dyskeratosis congenita who developed a unilateral late exudative retinopathy after having previous laser treatment for threshold retinopathy of prematurity as an infant.

Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome: clinical perspectives.

Idiopathic retinal vasculitis, aneurysms, and neuroretinitis (IRVAN) syndrome typically affects young, healthy individuals. Despite the dramatic fundus appearance seen in this syndrome, these patients are usually asymptomatic. The syndrome includes peculiar vascular abnormalities in the form of multiple aneurysmal dilatations seen along retinal arterioles and optic nerve-head arterioles, which are best appreciated on fluorescein angiography. Neuroretinitis and retinal vasculitis are seen in all patients, and manifested by staining of the optic nerve head and diffuse leakage from vessels, mainly arterioles, on fluorescein angiography. The devastating vision-threatening outcomes of this syndrome include exudative retinopathy and extensive peripheral retinal nonperfusion areas, which can eventually lead to neovascularization. This review summarizes current knowledge on the variable clinical aspects of this disease, highlighting diagnostic and treatment strategies.

Coats-like retinopathy in Joubert syndrome

An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally compatible with Coats-like pigmentary retinopathy, a phenomenon not previously reported in Joubert syndrome. Coats-like exudative retinopathy may result in permanent visual loss if left untreated. The exudative retinopathy was controlled after multiple sessions of indirect laser photocoagulation and cryotherapy, with a good visual outcome.

The wide-ranging clinical implications of the short telomere syndromes.

There is an increasing number of inherited disorders in which excessive telomere shortening underlies the molecular defect, with dyskeratosis congenita (DC) being the archetypal short telomere syndrome. DC is classically described as a mucocutaneous triad of oral leukoplakia, nail dystrophy and abnormal skin pigmentation. However, excessive telomere shortening can affect almost any organ system, so the clinical manifestations are protean, including developmental delay, cerebellar hypoplasia, exudative retinopathy, aplastic anaemia, acute myeloid leukaemia, idiopathic pulmonary fibrosis, idiopathic hepatic cirrhosis, head and neck cancer and dental abnormalities, and may be multi-systemic. Undiagnosed patients may be seen by essentially any medical subspecialist. Correct diagnosis is important to ensure appropriate management, and for initiating investigations to identify affected family members. Treatment is often supportive, with transplantation offering cure for pulmonary fibrosis or bone marrow failure. Higher rates of mortality and morbidity with transplantation often require regimen alterations, underscoring the need for correct diagnosis. Short telomeres result from mutations in genes essential for telomere maintenance (e.g. genes encoding subunits of the telomerase enzyme complex). Disease severity reflects not only the severity of the defect, but also the inheritance of short telomeres, giving rise to incomplete penetrance and genetic anticipation. Attendees of the inaugural Australian Short Telomere Syndrome Conference were updated on the current scientific and clinical understanding of these disorders, and discussed the best approach for management of these patients in the Australian context. This review will include recommendations from the conference and aims to increase awareness of short telomere disorders.