Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at birth would greatly improve functional and anatomic outcomes, limiting invasive treatments and general anesthesias through early childhood. We discuss herein the novel approach of population screening, the rationale for newborn testing for RB1 mutations, the incidence of expected cases, the reliability of the test and its costs. The next step is to move to a nation-scale population; this initiative marks a landmark in retinoblastoma patients’ care.

An 87-year-old woman was referred to our ophthalmology ward due to decreased visual acuity and intense right orbital pain, which had been present for four weeks. The anamnesis was not contributory, except that she had been vaccinated against severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) four weeks prior to symptom onset. Her best-corrected visual acuity was hand movements in the right eye and 20/20 in the left eye. Intra-ocular pressure was 34 mmHg and 16 mmHg, respectively. Right eye slit lamp examination revealed palpebral oedema, chemosis, and temporal scleral thickening with conjunctival injection. The cornea was edematous with endothelial precipitates. The anterior chamber was shallow with a closed angle, associated with grade 1+ cells and 1+ flare, according to the SUN grading system. Mild vitreous inflammation was present (grade 0.5+ vitreous cells), and a total choroidal detachment was visible. In the absence of any other plausible cause, unilateral choroidal effusion with secondary angle-closure due to severe panuveitis was considered a possible adverse event following vaccination against SARS-CoV2.