Phenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score

Background: Pseudoxanthoma elasticum (PXE) is a rare ectopic calcification genetic disease mainly caused by ABCC6 rare sequence variants. The clinical phenotype is characterized by typical dermatological, ophthalmological and cardiovascular manifestations, whose frequency and severity are differently reported in the literature. Methods: A retrospective study was performed on 377 PXE patients of Italian origin, clinically evaluated according to the Phenodex Index, who underwent ABCC6 biomolecular analyses. Moreover, 53 PXE patients were further characterized by in-depth ophthalmological examinations. Results: A total of 117 different ABCC6 rare sequence variants were detected as being spread through the whole gene. The severity of the clinical phenotype was dependent on age, but it was not influenced by gender or by the type of sequence variants. In-depth ophthalmological examinations focused on the incidences of coquille d'oeuf, comet lesions, pattern dystrophy-like lesions, optic disk drusen and posterior-pole atrophy. Conclusion: Given the large number of patients analyzed, we were able to better evaluate the occurrence of less frequent alterations (e.g., stroke, myocardial infarction, nephrolithiasis). A more detailed description of ophthalmological abnormalities allowed us to stratify patients and better evaluate disease progression, thus suggesting a further update of the PXE score system

Italian real-life experience on the use of ocriplasmin

Objective To evaluate the success of an intravitreal injection of ocriplasmin to release symptomatic vitreomacular traction (VMT) and close a full-thickness macular hole. Methods and analysis An observational retrospective multicentre study conducted in Italy. Patients with symptomatic distortion and loss of vision secondary to VMT were included in the study. The patients received a single injection of ocriplasmin and were followed up for 1, 3 and 6 months. Best-corrected visual acuity (BCVA) and spectral domani OCT (SD-OCT) were performed for patient assessment, and adverse events were recorded and analysed. Results 74 patients (74 eyes) were included in the study. 44 of 74 eyes (59.5%) experienced complete release of the VMT. Macular hole closure was obtained in eight eyes (40%). BCVA improved about three lines after 3 months of follow-up in the patients with VMT resolution in comparison with the patients who did not have VMT resolution (p<0.0001). In 55/74 eyes of 55 patients (74.3%), no adverse events were reported, and most of them were transitory (17/19; 89.5%). The mean time to resolve VMT was 27.4\ub121.9 days. No cases of retinal tear, retinal detachment or lens destabilisation were observed. Conclusion Ocriplasmin is a potential alternative treatment for patients with symptomatic VMT and has a good safety profile. A more careful selection of patients, in clinical practice, may increase the success rate