Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics services throughout 13 Argentinian provinces were analyzed retrospectively. Patients with a clinical diagnosis of an ophthalmic genetic disease and a history of genetic testing were included. Medical, ophthalmological and family history was collected. A total of 773 patients from 637 families were included, with 98% having inherited retinal disease. The most common phenotype was retinitis pigmentosa (RP, 62%). Causative variants were detected in 379 (59%) patients. USH2A, RPGR, and ABCA4 were the most common disease-associated genes. USH2A was the most frequent gene associated with RP, RDH12 early-onset severe retinal dystrophy, ABCA4 Stargardt disease, PROM1 cone-rod dystrophy, and BEST1 macular dystrophy. The most frequent variants were RPGR c.1345 C > T, p.(Arg449*) and USH2A c.15089 C > A, p.(Ser5030*). The study revealed 156/448 (35%) previously unreported pathogenic/likely pathogenic variants and 8 possible founder mutations. We present the genetic landscape of IED in Argentina and the largest cohort in South America. This data will serve as a reference for future genetic studies, aid diagnosis, inform counseling, and assist in addressing the largely unmet need for clinical trials to be conducted in the region.

Multimodal evaluation of osteosarcoma choroidal metastasis.

BACKGROUND: Osteosarcoma (OS) is the most common primary bone carcinoma. Adulthood most frequent intraocular malignant tumor is choroidal metastasis; however, these are rarely related to sarcomas. There are only two OS-related choroidal metastasis cases reported in the literature, both prior to 1970. CASE PRESENTATION: A 20-year-old man with a history of tibial OS, right leg amputation, and lung and brain metastases, presented with decreased vision in his right eye (OD). Ophthalmic examination revealed a best-corrected visual acuity of hand movements and a large, posterior pole, nodular, subretinal mass, with associated fluid. B-scan revealed a heterogeneous lump, with medium/high reflectivity, and a height-to-base ratio (HBR) of 1-1.2, approximately. Computerized tomography (CT) scan showed a hyperdense and contrast-enhanced mass, while on magnetic resonance imaging (MRI) the lesion appeared T1-isointense and T2-hypointense. CONCLUSION: Choroidal OS metastasis can appear as a pink nodule with high HBR and intralesional hyperreflective deposits. Sudden visual changes in individuals with OS-related systemic metastatic disease should be monitored closely by ophthalmology and oncology jointly.

Ophthalmic genetics in South America.

South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.