Introduction Choroidal thickness (CT) plays an important role in the pathogenesis of various ocular diseases, including neovascular age-related macular degeneration (nAMD). Previous studies evaluated the CT variations after anti-vascular endothelial growth factor (VEGF) injections in patients with nAMD, but the results are still controversial. The present study aimed to evaluate the CT at different times (15, 30, 60, 90, and 365 days) after intravitreal aflibercept injections and its correlation with the baseline CT in treatment-naïve patients with nAMD. Secondly, the study evaluated the correlation between CT variation at 365 days and the number of intravitreal injections received. Methods This was a prospective, open-label, single-arm pilot study. Twenty-one treatment-naïve nAMD eyes were enrolled. The study population underwent three monthly aflibercept injections (loading phase) and additional injections as needed (pro re nata regimen). A complete ophthalmological examination, including optical coherence tomography (OCT) was performed at each visit. CT was measured manually by two independent observers. All patients were evaluated at baseline and at 15, 30, 60, 90, and 365 days after the first intravitreal injection. Results CT showed a statistically significant reduction at days 15, 90, and 365 in comparison to baseline. However, the major reduction of CT was observed at day 15 and in eyes with a thicker choroid at baseline. No significant correlation between CT variation and the number of injections performed was found. Conclusion Our findings contribute to clarifying the role of aflibercept injections in choroidal vasculature, confirming its effect after the first 2 weeks. Moreover, CT can be considered as a potential biomarker, as it reflects the pharmacological effect of anti-VEGF drugs.

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease.

Background. Eyes shut homolog (EYS) gene mutations are estimated to affect at least 5% of patients with autosomal recessive retinitis pigmentosa. Since there is no mammalian model of human EYS disease, it is important to investigate its age-related changes and the degree of central retinal impairment. Methods. A cohort of EYS patients was studied. They underwent full ophthalmic examination as well as assessment of retinal function and structure, by full-field and focal electroretinograms (ERGs) and spectral domain optical coherence tomography (OCT), respectively. The disease severity stage was determined by the RP stage scoring system (RP-SSS). Central retina atrophy (CRA) was estimated from the automatically calculated area of the sub-retinal pigment epithelium (RPE) illumination (SRI). Results. The RP-SSS was positively correlated with age, showing an advanced severity score (≥8) at an age of 45 and a disease duration of 15 years. The RP-SSS was positively correlated with the CRA area. LogMAR visual acuity and ellipsoid zone width, but not ERG, were correlated with CRA. Conclusions. In EYS-related disease, the RP-SSS showed advanced severity at a relative early age and was correlated with the central area of the RPE/photoreceptor atrophy. These correlations may be relevant in view of therapeutic interventions aimed at rescuing rods and cones in EYS-retinopathy.

Acute posterior syphilitic placoid chorioretinopathy (ASPPC) is a rare ocular manifestation of syphilis characterized by outer retinal layers involvement and drop in visual acuity. The current work documents outer retinal layer involvement in this pathology and their reconstitution with treatment by means of adaptive optics (AO). Three eyes of two patients together with four controls eyes were included in the study. Patients underwent optical coherence tomography (OCT) and OCT angiography (OCTA) scan centered on fovea, where vessel density (VD) and vessel perfusion (VP) were calculated. AO images centered on fovea were acquired and cone density (CD) and cone spacing (CS) were measured and compared to control group. Multimodal imaging was performed at presentation, at 10 days, and at 2-month follow-up. All eyes improved in visual acuity, with reconstitution in outer retinal layers at 2-month follow-up. Overall choriocapillary layer VD and VP improved. AO imaging was able to identify outer retinal alterations at presentation and at follow-ups, with improvement in tissue architecture. CD and CS was respectively lower and greater than controls at all follow-ups and improved within patients at the 2-month follow-up. In conclusion, AO was able to document outer retinal alterations in ASPPC at presentation and improvement over the follow-up, representing a tool to study photoreceptor layer involvement in this pathology.

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy with a wide range of manifestations including retinal vasculopathy. This study aimed to analyse retinal vascular involvement in FSHD patients using fundus photographs and optical coherence tomography-angiography (OCT-A) scans, evaluated through artificial intelligence (AI). Thirty-three patients with a diagnosis of FSHD (mean age 50.4 ± 17.4 years) were retrospectively evaluated and neurological and ophthalmological data were collected. Increased tortuosity of the retinal arteries was qualitatively observed in 77% of the included eyes. The tortuosity index (TI), vessel density (VD), and foveal avascular zone (FAZ) area were calculated by processing OCT-A images through AI. The TI of the superficial capillary plexus (SCP) was increased (p < 0.001), while the TI of the deep capillary plexus (DCP) was decreased in FSHD patients in comparison to controls (p = 0.05). VD scores for both the SCP and the DCP results increased in FSHD patients (p = 0.0001 and p = 0.0004, respectively). With increasing age, VD and the total number of vascular branches showed a decrease (p = 0.008 and p < 0.001, respectively) in the SCP. A moderate correlation between VD and EcoRI fragment length was identified as well (r = 0.35, p = 0.048). For the DCP, a decreased FAZ area was found in FSHD patients in comparison to controls (t (53) = −6.89, p = 0.01). A better understanding of retinal vasculopathy through OCT-A can support some hypotheses on the disease pathogenesis and provide quantitative parameters potentially useful as disease biomarkers. In addition, our study validated the application of a complex toolchain of AI using both ImageJ and Matlab to OCT-A angiograms.

Geographic atrophy (GA) is a vision-threatening late manifestation of age-related macular degeneration (AMD) and is increasingly recognized as the atrophic endpoint toward which advanced dry and neovascular AMD may converge. This review examines the clinical and translational progression from early AMD to GA, focusing on the key pathogenic factors, affected tissues, and stage-specific therapeutic approaches. We performed a mechanism-oriented synthesis of clinical, translational, and preclinical evidence identified through search of Medline, Web of Science Core Collection, and Scopus conducted from February to September 2026. Aging, genetic susceptibility, oxidative stress, mitochondrial dysfunction, impaired heterophagy and autophagy, retinoid by-product accumulation, complement dysregulation, and Bruch’s membrane remodeling progressively disrupt outer-retinal homeostasis. Drusen and subretinal pigment epithelium deposits represent structural markers of this imbalance and contribute to a self-amplifying microenvironment of impaired transport, local inflammation, and tissue remodeling. As reparative capacity fails, regulated cell-death programs including ferroptosis, necroptosis, apoptosis, pyroptosis, and inflammation-associated injury, promote lesion formation and expansion of atrophic areas. Current therapies remain stage-specific: anti-vascular endothelial growth factor agents control exudation in neovascular AMD, whereas complement inhibitors slow GA enlargement without restoring lost RPE-photoreceptor architecture. GA should therefore be regarded as the final expression of cumulative metabolic, immune, vascular, and extracellular matrix failure, supporting earlier multifaceted therapeutic strategies.