Paracentral acute middle maculopathy (PAMM) is a macular condition primarily detected using optical coherence tomography (OCT) imaging. It presents as hyperreflective bands within the inner nuclear layer (INL) of the retina, often leading to localized degenerative phenomena. PAMM is a condition that reveals a dysfunction in the microvascular network of the retina. However, it is not an isolated phenomenon but rather an indicator of deeper and even systemic, prevalently vascular-related issues related to a wide array of conditions that impact circulation, including retinal vein and artery occlusion, diabetic retinopathy, and hypertensive retinal vascular changes. PAMM occurs due to impaired perfusion within the retinal deep capillary plexus, clinically leading to subtle but noticeable blind spots (scotomas) in the central visual field. Recent advances in imaging technology, particularly optical coherence tomography angiography (OCTA), have provided a clearer view of the underlying vascular alterations. Thus, PAMM may currently serve as a biomarker in broader ocular and systemic pathologies before disease progression. This review explores the latest reports in the literature on PAMM, from its characteristic imaging features to the evolving theories behind its development. By bridging the gap between ophthalmology and systemic health, PAMM may facilitate earlier diagnosis and tailored management strategies for conditions that extend far beyond the eye. Understanding this entity could ultimately transform our approach to assessing vascular health toward further research, risk prediction, and patient care.

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.

Posterior polar annular choroidal dystrophy (PPACD) is a rare ocular disorder and presents as symmetric degeneration of the retinal pigment epithelium (RPE) and the underlying choriocapillaris, encircling the retinal vascular arcades and optic disc. This condition distinctively preserves the foveal region, optic disc, and the outermost regions of the retina. Despite its distinct clinical presentation, due to the infrequency of its occurrence and the limited number of reported cases, the pathophysiology, and the genetic foundations of PPACD are still largely uncharted. This review aims to bridge this knowledge gap by investigating potential genetic contributors to PPACD, assessing current findings, and identifying genes that warrant further study. Emphasis is also placed on the crucial role of multimodal imaging in diagnosing PPACD, highlighting its importance in understanding disease pathophysiology. By analyzing existing case reports and drawing comparisons with similar retinal disorders, this paper endeavors to delineate the possible genetic correlations in PPACD, providing a foundation for future genetic research and the development of targeted diagnostic strategies.

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.

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.