Age-related macular degeneration (AMD) is a complex and multifactorial disease, resulting from the interaction of environmental and genetic factors. The continuous discovery of associations between genetic polymorphisms and AMD gives reason for the pivotal role attributed to the genetic component to its development. In that light, genetic tests and polygenic scores have been created to predict the risk of development and response to therapy. Still, none of them have yet been validated. Furthermore, there is no evidence from a clinical trial that the determination of the individual genetic structure can improve treatment outcomes. In this comprehensive review, we summarize the polymorphisms of the main pathogenetic ways involved in AMD development to identify which of them constitutes a potential therapeutic target. As complement overactivation plays a major role, the modulation of targeted complement proteins seems to be a promising therapeutic approach. Herein, we summarize the complement-modulating molecules now undergoing clinical trials, enlightening those in an advanced phase of trial. Gene therapy is a potential innovative one-time treatment, and its relevance is quickly evolving in the field of retinal diseases. We describe the state of the art of gene therapies now undergoing clinical trials both in the field of complement-suppressors and that of anti-VEGF.

Inherited macular dystrophies refer to a group of degenerative conditions that predominantly affect the macula in the spectrum of inherited retinal dystrophies. Recent trends indicate a clear need for genetic assessment services in tertiary referral hospitals. However, establishing such a service can be a complex task due to the diverse skills required and multiple professionals involved. This review aims to provide comprehensive guidelines to enhance the genetic characterization of patients and improve counselling efficacy by combining updated literature with our own experiences. Through this review, we hope to contribute to the establishment of state-of-the-art genetic counselling services for inherited macular dystrophies.

Objective: The objective of this study was to analyze the status of the retinal pigment epithelium (RPE) by means of the spectral domain optical coherence tomography (SD-OCT) overlying the myopic neovascular lesions in the involutive phase, looking for any correlations between the status of the RPE and the size of the lesions and the type and duration of the treatment. Methods: SD-OCT examinations of 83 consecutive patients with myopic choroidal neovascularization (CNV) were reviewed and divided into two groups: group A, patients with CNV characterized by uniformity of the overlying RPE, and group B, patients with CNV characterized by non-uniformity of the overlying RPE. Results: The median lesion area, major diameter, and minimum diameter were, respectively, 0.42 mm² (0.30–1.01 mm²), 0.76 mm² (0.54–1.28 mm²), and 0.47 mm² (0.63–0.77 mm²) in group A, and 1.60 mm² (0.72–2.67 mm²), 1.76 mm² (1.13–2.23 mm²), and 0.98 mm² (0.65–1.33 mm²) in group B. These values were lower in group A than in group B (p < 0.001). The number of treatments with a period free of disease recurrence for at least 6 months was greater (p < 0.010) in group B (6.54 ± 2.82) than in group A (3.67 ± 2.08), and treatments include intravitreal anti-vascular endothelial growth factor injection, photodynamic therapy, or both. Conclusions: Our results showed that the size of myopic neovascular lesion influences the development of a uniform RPE above the lesion and therefore the disease prognosis. The presence of uniform RPE was found to be extremely important in the follow-up of patients with myopic CNV, as it influences the duration of the disease and the number of treatments required.

A 77-year-old-man with arterial hypertension, diabetes mellitus type II presented at our clinic for a routine ophthalmological exam. He complained of intermittent double vision. The ophthalmic examination revealed paralysis of III (n. oculomotorius) and VI (n. abducens) cranial nerves with ptosis, deficit in elevation and abduction of the left eye. The patient underwent urgent MRI imaging of the brain/orbits and paranasal sinuses, and urgent neurological assessment. MRI revealed a volume-occupying process, starting from the posterior wall of the left maxillary sinus with perineural diffusion and involvement of the homolateral trigeminal nerve, intracranial spread in the medial cranial fossa and involvement of the cavernous, sphenoidal sinuses and the orbital apex on the left side. Biopsy was performed, and the histology resulted in sinonasal squamous cell carcinoma with intracranial spread.