Ocular endothelial dysfunction in pediatric inflammatory bowel disease.

OBJECTIVES: To assess ocular microvasculature changes using optical coherence tomography angiography (OCTA) in pediatric patients with inflammatory bowel disease (IBD). METHODS: Patients (aged 6-18 years) with IBD were recruited between September 2021 and May 2023. All eligible participants underwent comprehensive clinical assessment and laboratory investigation. Patients with functional gastrointestinal disorders served as the controls. This study assessed specific IBD phenotypes, disease duration, clinical and endoscopic activity indices, laboratory markers, and medication histories. OCTA was utilized to evaluate ocular microvasculature changes in both groups. RESULTS: A total of 63 children (mean age 12.9 ± 3.3 years) were enrolled, comprising 38 in the IBD group (16 ulcerative colitis, 22 Crohn's disease, and 25 in the control group). Most patients in the IBD group were in remission or had mild-to-moderate disease activity at enrollment. Analysis of the OCTA results revealed significant differences in the choroidal luminal area and total choroidal area between the IBD and control groups. CONCLUSIONS: The study identified distinct ocular microvasculature changes in pediatric IBD patients through OCTA, suggestive of potential systemic endothelial dysfunction. These findings underscore the utility of OCTA in evaluating microvascular alterations associated with pediatric IBD, offering insights into potential systemic complications linked to inflammation in IBD patients.

Parkinson's Disease: What Can Retinal Imaging Tell Us?

Parkinson's disease (PD) is a neurodegenerative disorder characterized by motor symptoms such as tremors, rigidity, and bradykinesia. While the diagnosis of PD primarily relies on clinical assessments and neurological examination, there has been growing interest in exploring non-invasive imaging techniques to aid in early detection and monitoring of the disease. In recent years, retinal imaging has emerged as a promising tool for studying PD due to the close anatomical and functional similarities between the retina and the brain. Retinal imaging methods, such as spectral domain optical coherence tomography and optical coherence tomography angiography, enable non-intrusive visualization and measurement of retinal structures and blood vessels. These techniques hold the promise of capturing alterations in retinal structure and function that could potentially mirror the underlying pathological mechanisms in PD. This review article aims to provide an overview of the current understanding of retinal changes in PD and the potential utility of retinal imaging as a diagnostic and monitoring tool.

Central macular choriocapillaris impairment as a manifestation of microvascular disease in eyes with subretinal drusenoid deposits.

BACKGROUND/OBJECTIVES: Microvascular alterations and choroidal impairment are emerging as a pathologic pathway in age-related macular degeneration (AMD). This study aimed to evaluate the central macular choriocapillaris (CC) in eyes with subretinal drusenoid deposits (SDD) and the retinal microvasculature in patients with early AMD phenotypes. SUBJECTS/METHODS: This was an institutional, multicentric observational cross-sectional study. Ninety-nine eyes of 99 subjects; 33 eyes with SDD only, 33 eyes with conventional drusen (CD) only, and 33 eyes of healthy age-matched subjects were included. Comprehensive ophthalmologic examination and optical coherence tomography angiography (OCTA) was performed. The central macular flow area of the CC was analysed in the SDD group and the vessel density of the retinal superficial capillary plexus (SCP) and deep capillary plexus (DCP) was analysed in the SDD and CD groups using automated OCTA output parameters. RESULTS: The flow area of the CC in the SDD group was significantly reduced (p ≤ 0.001) with respect to the healthy control group. There was a trend of reduction of vessel density of the SCP and the DCP in the SDD and CD group with respect to controls, although this did not reach statistical significance. CONCLUSIONS: OCTA data in the present report corroborate the role of vascular damage in early AMD with CC impairment in the central macular area in eyes with SDD.

Multimodal Ophthalmic Imaging in Spinocerebellar Ataxia Type 7.

The aim of this case series and narrative literature review is to highlight the importance of multimodal imaging in the ophthalmological examination of patients with spinocerebellar ataxia type 7 and provide a summary of the most relevant imaging techniques. Three patients with SCA7 were included in this case series. A literature review revealed twenty-one publications regarding ocular manifestations of SCA7, and the most relevant aspects are summarized. The role of different imaging techniques in the follow-up of SCA7 patients is analyzed, including color vision testing, corneal endothelial topography, color fundus photography (CFP) and autofluorescence, near infrared reflectance imaging, spectral domain optical coherence tomography (SDOCT), visual field examination, and electrophysiological tests. SDOCT provides a rapid and non-invasive imaging evaluation of disease progression over time. Additional examination including NIR imaging can provide further information on photoreceptor alteration and subtle disruption of the RPE, which are not evident with CFP at an early stage. Electrophysiological tests provide essential results on the state of cone and rod dystrophy, which could be paramount in guiding future genetic therapies. Multimodal imaging is a valuable addition to comprehensive ophthalmological examination in the diagnosis and management of patients with SCA7.

An Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome.

Sturge-Weber syndrome (SWS) is characterized by facial port-wine stains, leptomeningeal hemangiomas, and prominent ocular manifestations such as glaucoma and diffuse choroidal hemangiomas (DCHs). Imaging modalities are critical for diagnosing and longitudinally monitoring DCHs in SWS. Fundus photography is fundamental in assessing both eyes simultaneously, fluorescein angiography and indocyanine green angiography effectively map the retinal and choroidal circulation, and ultrasonography offers essential structural insights into the choroid and retina. NIR imaging reveals subtle retinal pigment changes, often overlooked in standard fundus examination. Enhanced depth imaging spectral domain optical coherence tomography (EDI-SDOCT) and swept-source OCT (SSOCT) improve the visualization of the choroidal-scleral boundary, essential for DCH characterization. The potential of OCT angiography (OCTA) is under exploration, particularly its role in predicting signs of disease progression or worsening, as well as potential new biomarkers such as the choroidal vascularity index (CVI). The present review aims to provide an update on multimodal imaging of DCHs in SWS.

The Choroidal Vascularity Index Versus Optical Coherence Tomography Angiography in the Evaluation of the Choroid with a Focus on Age-Related Macular Degeneration.

The choroid is the most vascularized structure of the eye and it is fundamental for the trophism of the outer retina. Its proper functioning and homeostasis represent key points in maintaining normal retinal physiology. Choroidal alterations may be implicated in the development and progression of numerous pathologies; therefore, in-depth studies using imaging techniques can be of crucial relevance to understanding the pathophysiology of retinal-choroidal diseases. The advent of spectral-domain optical coherence tomography (SDOCT) has enabled the non-invasive study of the choroid in vivo and the most recent development, optical coherence tomography angiography (OCTA), allows for the high-resolution visualization of the choriocapillaris and the choroid in regard to vascularization. The choroidal vascularity index (CVI) is a new parameter calculated on SDOCT scans and is defined as the ratio of the luminal area to the total choroidal area. In this review, a study of the choroid using OCTA and CVI will be evaluated in depth and the pros and cons of these two methods will be analyzed, with a particular focus on age-related macular degeneration.

The Role of Diabetic Choroidopathy in the Pathogenesis and Progression of Diabetic Retinopathy.

Diabetic choroidopathy was first described on histopathological specimens of diabetic eyes. This alteration was characterized by the accumulation of PAS-positive material within the intracapillary stroma. Inflammation and polymorphonuclear neutrophils (PMNs) activation are crucial elements in choriocapillaris impairment. The evidence of diabetic choroidopathy in vivo was confirmed with multimodal imaging, which provides key quantitative and qualitative features to characterize the choroidal involvement. The choroid can be virtually affected in each vascular layer, from Haller's layer to the choriocapillaris. However, the damage on the outer retina and photoreceptor cells is essentially driven by a choriocapillaris deficiency, which can be assessed through optical coherence tomography angiography (OCTA). The identification of characteristic features of diabetic choroidopathy can be significant for understanding the potential pathogenic and prognostic implications in diabetic retinopathy.

Retinal and Choriocapillaris Vascular Changes in Early Alzheimer Disease Patients Using Optical Coherence Tomography Angiography.

BACKGROUND: Alzheimer disease (AD) is a neurodegenerative disorder characterized by ß-amyloid accumulation in the brain. A simple and reliable biomarker for AD that is not invasive is urgently needed, particularly in the preclinical and early stages of the disease. The retina shares with the brain, the same embryologic origins and it is affected by similar vascular changes. The aim of this study was to analyze the characteristics of the retinal and choriocapillaris vascular structure through optical coherence tomography-angiography (OCTA) evaluation in patients with early AD. METHODS: Eighteen patients with early AD (study group) and 18 healthy age-matched subjects (control group) were enrolled in the study. All patients underwent full neurologic and ophthalmologic examination, and OCTA scans. RESULTS: We found a significant reduction in flow area of choriocapillaris in the study group compared with the control group (P-value: 0.006), suggesting an impairment of choriocapillaris circulation in patients with early AD. CONCLUSION: OCTA provides accumulative evidence on the microvasculature changes of the retina and choriocapillaris in patients with AD. Further studies and improved OCTA software are necessary to better evaluate the role of vascular changes shown with OCTA as potential biomarkers in early disease.

The Role of Alpha-Synuclein Deposits in Parkinson's Disease: A Focus on the Human Retina.

Parkinson's disease (PD) is a neurodegenerative condition characterized by the progressive deterioration of dopaminergic neurons in the central and peripheral autonomous system and the intraneuronal cytoplasmic accumulation of misfolded α-synuclein. The clinical features are the classic triad of tremor, rigidity, and bradykinesia and a set of non-motor symptoms, including visual deficits. The latter seems to arise years before the onset of motor symptoms and reflects the course of brain disease. The retina, by virtue of its similarity to brain tissue, is an excellent site for the analysis of the known histopathological changes of PD that occur in the brain. Numerous studies conducted on animal and human models of PD have shown the presence of α-synuclein in retinal tissue. Spectral-domain optical coherence tomography (SD-OCT) could be a technique that enables the study of these retinal alterations in vivo. The objective of this review is to describe recent evidence on the accumulation of native or modified α-synuclein in the human retina of patients with PD and its effects on the retinal tissue evaluated through SD-OCT.

Choroidal Neovascular Membranes in Retinal and Choroidal Tumors: Origins, Mechanisms, and Effects.

Choroidal neovascularizations are historically associated with exudative macular degeneration, nonetheless, they have been observed in nevus, melanoma, osteoma, and hemangioma involving the choroid and retina. This review aimed to elucidate the possible origins of neovascular membranes by examining in vivo and in vitro models compared to real clinical cases. Among the several potential mechanisms examined, particular attention was paid to histologic alterations and molecular cascades. Physical or biochemical resistance to vascular invasion from the choroid offered by Bruch's membrane, the role of fibroblast growth factor 2 and vascular endothelial growth factor, resident or recruited stem-like/progenitor cells, and other angiogenic promoters were taken into account. Even if the exact mechanisms are still partially obscure, experimental models are progressively enhancing our understanding of neovascularization etiology. Choroidal neovascularization (CNV) over melanoma, osteoma, and other tumors is not rare and is not contraindicative of malignancy as previously believed. In addition, CNV may represent a late complication of either benign or malignant choroidal tumors, stressing the importance of a long follow-up.

Subretinal drusenoid deposits as a biomarker of age-related macular degeneration progression via reduction of the choroidal vascularity index.

BACKGROUND/OBJECTIVES: This study aimed to analyse the role of the choroid in early age-related macular degeneration (AMD) by analysing choroidal vascularity index (CVI) in pure cohorts of patients with subretinal drusenoid deposits (SDD) or conventional drusen (CD). SUBJECTS/METHODS: This was an observational cross-sectional study. Comprehensive ophthalmologic examination and multimodal imaging including fundus photography, autofluorescence, near infrared reflectance, and spectral domain optical coherence tomography (SDOCT) was performed. CVI processing was performed on a foveal horizontal SDOCT scan with binarization using Image J Image software and calculated as the ratio between luminal area (LA) and total area (TA). RESULTS: Sixty-nine eyes of 69 participants were included; 23 eyes with SDD alone, 22 eyes with CD alone, and 24 control eyes of healthy age-matched subjects. CVI was significantly reduced in the SDD and CD group compared to controls (p = 0.0001). Post-hoc analysis revealed a significant reduction of CVI in the SDD versus the control group (p = 0.0002), in the CD versus the control group (p = 0.001), and in the SDD versus the CD group (p = 0.006). Covariance analysis showed a significant difference of LA (p = 0.033) but no significant difference of TA (p = 0.106) between the three groups. Direct comparison between CD and SDD showed a significant reduction of LA and TA in the SDD group. CONCLUSIONS: CVI may have prognostic implications in early AMD. SDD is a biomarker of AMD progression and the mechanism for this could be via reduction of the CVI.

Choroidal vascularity index and choroidal thickness: potential biomarkers in retinitis pigmentosa.

Retinitis pigmentosa (RP) is the commonest inherited retinal dystrophy. It is characterized by progressive photoreceptor degeneration and cell death and ongoing neuronal and vascular impairment. In recent years, pathophysiological alterations of the choroid have begun to be appreciated in RP. Thus, representing a potential diagnostic and therapeutic biomarker. In particular, choroidal thickness and the choroidal vascularity index can be used to understand the pathogenesis of disease and evaluate new therapeutic possibilities. Photoreceptor changes seen in eyes with RP are directly correlated to a decrease of choroidal flow, leading to a strong association between relative choroidal ischemia and visual impairment. In this review we analyse the literature on choroidal thickness and choroidal vascularity index in patients with RP and assess whether these markers may reflect progression of disease from an anatomical and functional point of view.

Choroidal Vasculature Changes in Age-Related Macular Degeneration: From a Molecular to a Clinical Perspective.

The contribution of choroidal vasculature to the pathogenesis of age-related macular degeneration (AMD) has been long debated. The present narrative review aims to discuss the primary molecular and choroidal structural changes occurring with aging and AMD with a brief overview of the principal multimodal imaging modalities and techniques that enable the optimal in vivo visualization of choroidal modifications. The molecular aspects that target the choroid in AMD mainly involve human leukocyte antigen (HLA) expression, complement dysregulation, leukocyte interaction at Bruch's membrane, and mast cell infiltration of the choroid. A mechanistic link between high-risk genetic loci for AMD and mast cell recruitment has also been recently demonstrated. Recent advances in multimodal imaging allow more detailed visualization of choroidal structure, identifying alterations that may expand our comprehension of aging and AMD development.

The Role of the Choroid in Stargardt Disease.

Stargardt disease is the commonest juvenile macular dystrophy. It is caused by genetic mutations in the ABCA4 gene. Diagnosis is not always straightforward, and various phenocopies exist. Late-onset disease can be misdiagnosed with age-related macular disease. A correct diagnosis is particularly critical because of emergent gene therapies. Stargardt disease is known to affect retinal pigment epithelium and photoreceptors. Many studies have also highlighted the importance of the choroid in the diagnosis, pathophysiology, and progression of the disease. The choroid is in an integral relationship with the retinal pigment epithelium and photoreceptors, and its possible involvement during the disease should be considered. The purpose of this review is to analyze the current diagnostic tools for choroidal evaluation and the extrapolation of useful data for ophthalmologists and researchers studying the disease.

Inner Retinal Layer Thickness Alterations in Early Age Related Macular Degeneration in Eyes with Subretinal Drusenoid Deposits or Conventional Drusen.

The purpose of this study was to evaluate central and parafoveal inner retinal layer thickness in patients with subretinal drusenoid deposits (SDD) or conventional drusen (CD). Participants underwent comprehensive ophthalmoscopic examination. Evidence of SDD or CD was evaluated with near infrared reflectance and spectral domain optical coherence tomography. Quantification of subfoveal lesions was made through a qualitative analysis of vertical and horizontal SD-OCT scans centered on the fovea. Inner retinal layer macular thickness measurements were obtained for central circles with 1, 3, and 5 mm diameter. Continuous variables were compared by the analysis of covariance (ANCOVA) with post-hoc Tukey HSD correction for multiple comparison analysis. Fifty-five patients were included in the study; 18 eyes with SDD alone, 19 eyes with CD alone, and 18 eyes of healthy age-matched subjects. Eight eyes with SDD (44%) and 13 eyes with CD (68%) had subfoveal lesions. There was significant reduction in the inner retinal layer thickness in the central 1mm area and in the superior 3 mm area in the SDD and CD group compared to controls. In conclusion the inner retinal layer is thinner in the central macula and in the superior parafovea in eyes.

Current concepts on ocular vascular abnormalities in the phakomatoses.

BACKGROUND: Neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis complex are classified under the term phakomatoses. They are characterized by ocular vascular abnormalities such as vascular tortuosity, corkscrew retinal vessel configuration, moyamoya-like aspect, microaneurysms, hemangioblastomas, and focal sheathing of retinal arteries, possibly due to abnormal formation, migration, and differentiation of neural crest cells. These alterations can be the first sign or the hallmark of disease and can be related to vasoproliferative tumors. PURPOSE: Novel imaging technologies in ophthalmology, such as near-infrared reflectances and spectral domain optical coherence tomography, have improved our knowledge in the diagnosis of these pathologies. Previously undetected macular vascular alterations have been reported in phakomatoses using optical coherence tomography angiography. This review will summarize the ophthalmic vascular abnormalities and novel imaging methods in the phakomatoses. CONCLUSION: Active research is being led into the ophthalmic management of these conditions and their complications, and owing to elevated vascular endothelial growth factor production from hemangioblastoma, hamartoma, and retinal vascular proliferative tumors, increasing interest in this line of therapy has been conducted although research is still ongoing in this area.

Human amniotic membrane patch and platelet-rich plasma to promote retinal hole repair in a recurrent retinal detachment.

PURPOSE: To present a modified surgical technique, based on a combination of human amniotic membrane (hAM) patch and autologous Platelet-rich plasma (PRP) in a case of recurrent retinal detachment (RRD) due to a perivascular retinal hole over an area of staphyloma in an eye with pathologic myopia. METHODS: Presenting the surgical technique with the disposal of surgical video. After performing 23-gauge pars plana vitrectomy (PPV) the hAM patch was inserted under the neuroretina through the perivascular hole and PRP was injected on top to speed up the closure of the hole. To complete the surgical procedure High Viscosity Silicon oil (5000cst) was used as tamponade. The patient was prescribed to maintain a face-down position for the first 3 days after the operation. Follow-up was evaluated through Optical coherence tomography (OCT) scans. RESULTS: The 3 days postoperative OCT showed a flat retina with the filling of the myopic staphyloma. The hAM patch was well positioned and the retinal hole could not be identified. At 6 weeks from intervention, the site of the retinal hole at OCT scan was covered by new tissue. Silicone oil was removed 3 months later with no recurrence. CONCLUSION: hAM transplantation is a novel technique in case of retinal detachment recurrences to seal retinal holes over high myopic chorioretinal atrophy. The adjunctive use of PRP and high viscosity silicon oil allows to reducing the standard face-down positioning timing, representing a valid solution for elderly patients who have difficulties maintaining the position for long periods.

An Iconic Case of Pigmentary Glaucoma: Brief Review of the Literature.

Pigment dispersion syndrome and pigmentary glaucoma are two conditions characterized by pigment dispersion originating from the posterior part of the iris and its accumulation on the trabecular meshwork, corneal endothelium, and anterior surface of the lens. The pigment on the trabecular meshwork can cause chronic inflammation with a secondary reduction of its function and an increase in intraocular pressure. The case presented represents a typical example of pigmentary glaucoma in a myopic patient in which all the signs, symptoms, and complications typical of these pathologies were present. We report and describe an 8-year-long follow-up period with clinical and instrumental examinations.