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.

中文翻译：

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南美洲的眼科遗传学。

南美洲由异质的地形、人口和医疗保健系统组成。因此，看到各国在罕见眼病患者眼遗传学的专业知识、教育和实践方面存在差异也就不足为奇了。然而，所有这些都存在共同挑战，例如医学院和眼科医生的遗传学培训有限、表型诊断工具的缺乏以及公共医疗保健系统未涵盖的昂贵的基因检测。在这里，我们提供了一份关于眼科遗传学现状的详细报告，由来自巴西、哥伦比亚、阿根廷和智利的当地眼科医生的个人观点描述。通过报告我们作为一个地区的优势和劣势，我们打算强调需要制定与公共卫生政策相一致的患者管理指南。我们的地区为世界范围内的研究做出了贡献，拥有来自许多独特且遗传多样的人群的数千名诊断良好的患者。眼科遗传学和分子诊断学的不断扩展要求我们联手在南美洲和其他国家合作，以改善获得下一代诊断的机会并最终改善患者护理。