Mariachiara Di Pippo

Background/Objectives: Sturge–Weber syndrome (SWS) is a rare neuro-oculocutaneous disorder characterized by leptomeningeal angioma, naevus flammeus, and ocular manifestations, including diffuse choroidal hemangioma (DCH). This study compares the diagnostic performance of near-infrared reflectance (NIR) imaging and enhanced depth imaging spectral-domain optical coherence tomography (EDI-SDOCT) with fundus photography in detecting DCH. Methods: Seventeen patients with SWS underwent comprehensive ophthalmologic evaluation, including fundus photography, NIR, and EDI-SDOCT imaging. Sensitivity, specificity, and accuracy of fundus photography, NIR, and EDI-SDOCT were calculated. Results: Sixteen patients had evaluable data. DCH was identified by fundus photography in five (31%), NIR in three (18.75%), and EDI-SDOCT in fourteen patients (87.50%). EDI-SDOCT alone demonstrated 100% sensitivity and 100% accuracy, outperforming both NIR (21.4% sensitivity; 31.6% accuracy) and fundus photography (35.7% sensitivity; 43.8% accuracy). When positive findings on NIR and/or SDOCT were combined, sensitivity and accuracy reached 100%. EDI-SDOCT provided detailed morphologic visualization of the choroid, allowing for early diagnosis of DCH even in pediatric cases with limited patient cooperation. Conclusions: EDI-SDOCT significantly improves the detection of DCH in SWS compared with fundus photography and NIR. Given its superior sensitivity and accuracy, incorporating EDI-SDOCT into routine clinical assessment may enable earlier diagnosis and reduce retinal complications in SWS.

Optical coherence tomography (OCT) is a non-invasive imaging technique in the field of ophthalmology that has been increasingly recognized for its capability to identify potential biomarkers in neurodegenerative processes. While the retinal nerve fiber layer (RNFL) has been vastly explored, this review focuses on the ganglion cell layer (GCL), highlighting its relevance and potential advantages in the diagnostic approach and monitoring of neurodegenerative conditions. In the present review we explore the role of GCL changes detected by OCT in Alzheimer’s disease (AD), Parkinson’s disease (PD), and multiple sclerosis (MS). We focus on these conditions due to their prevalence and substantial social impact among neurodegenerative diseases. We summarize key findings on the changes in the GCL and their correlations with disease progression and severity. Moreover, we highlight GCL measurements in the context of a multidisciplinary diagnostic approach, and their potential in adapting tailored therapeutic strategies in neurodegenerative disease management. Challenges such as methodological variability in OCT measurements, automatic instrumental output parameters, the limitations of GCL as a standalone diagnostic tool, and the impact of systemic and ocular factors are discussed. Finally, we propose that forthcoming advancements in OCT technology, integration with other biomarkers, and longitudinal studies will likely further enhance the understanding of GCL changes over time.

Background/Objectives: The aim of the current investigation was to assess the short-term changes in retinal-choroidal vasculature and the morphological complexity of non-exudative macular neovascularization (NE-MNV) using optical coherence tomography angiography (OCTA) and spectral-domain optical coherence tomography (SD-OCT). Methods: Sixteen eyes of 12 patients with NE-MNV underwent baseline and six-month follow-up examinations, including comprehensive ophthalmological assessment and imaging. Central macular thickness, foveal avascular zone, vessel density, flow area, and choroidal vascularity index were analyzed. NE-MNV morphology was quantitatively assessed for area, vessel characteristics, and fractal dimensions. Results: Significant changes in NE-MNV morphology were noted over six months, especially in fractal dimensions, vessel junctions, and vessel length (p-values: 0.01, 0.037, and 0.036, respectively). While there was an increase in the NE-MNV area, it did not reach statistical significance. No significant changes were shown regarding the standard SD-OCT and OCTA output parameters or choroidal measurements. Conclusions: The increase in NE-MNV fractal dimensions suggests rising complexity in the neovascular network and may indicate possible implications for clinical management. The correlation between baseline and follow-up measures underscores a trend toward complexity, pointing to the necessity for closer monitoring of patients with higher NE-MNV fractal dimensions.

Sphingolipidoses are a class of inherited lysosomal storage diseases, characterized by enzymatic deficiencies that impair sphingolipid degradation. This enzymatic malfunction results in the pathological accumulation of sphingolipids within lysosomes, leading to tissue damage across multiple organ systems. Among the various organs involved, the eye and particularly the retina, can be affected and this will be the primary focus of this study. This article will explore the various subtypes of sphingolipidoses, detailing their associated retinal abnormalities, with an emphasis on multimodal imaging findings and clinical recognition of these rare disorders.

Optical coherence tomography (OCT) has emerged as a pivotal imaging modality in elucidating the pathogenic, clinical, and prognostic implications of age-related macular degeneration (AMD). This review examines the utility of OCT in providing high-resolution, cross-sectional imaging of retinal structures comparable to an in vivo histopathology. Recent histopathological correlations with OCT have enabled the precise characterization of AMD extracellular lesions, improving the interpretation of several OCT signatures. By correlating OCT findings with clinicopathological features, a deeper understanding of the underlying pathophysiology of AMD is achieved, facilitating early detection, risk stratification, and therapeutic decision making. Furthermore, OCT-derived biomarkers offer valuable insights into disease severity, response to treatment, and prognostic outcomes, thereby enhancing patient care and optimizing visual outcomes.

Diabetes mellitus (DM) significantly impacts ocular health, particularly the retina and choroid, leading to diabetic retinopathy (DR) and diabetic macular edema (DME). This study aimed to evaluate the effects of intravitreal dexamethasone (IVD) on the choroidal vascularity index (CVI) in order to evaluate its potential as a biomarker. This was a retrospective observational study in which 37 eyes with DME treated with IVD were included. Baseline and follow-up (2 and 4 months post-injection) comprehensive ophthalmological examinations and spectral domain optical coherence tomography (SD-OCT) were performed. The CVI, luminal area (LA), stromal area (SA), and total area (TA) were assessed. No statistically significant changes in CVI, LA, SA, and TA were observed in the overall patient sample from baseline to 2 and 4 months post-IVD injection. However, a significant CVI reduction was noted in responder patients at 4 months. Positive correlations were found between the CVI and central macular thickness (CMT) at 2 months, suggesting that higher CMT values are associated with higher CVI values. This study indicated that IVD influences choroidal circulation, as evidenced by CVI reduction in responder patients. The CVI could potentially serve as an objective biomarker for treatment response in DME. Larger, prospective studies are warranted to clarify these findings further.

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.

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 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.

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. Conclusions: 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.