OPHTHALMOLOGICAL MANIFESTATIONS OF PATAU SYNDROME

Abstract

Introduction: Patau Syndrome, also known as trisomy 13, is an aneuploidy that manifests as a series of severe congenital anomalies, including several ophthalmological manifestations. These manifestations include microphthalmia, coloboma, glaucoma, and cataract, reflecting the complexity of ocular development affected by the chromosomal abnormality. Affected individuals often present with a combination of physical, neurological, and ophthalmological defects, which significantly compromise quality of life and survival. Understanding these manifestations is essential for early diagnosis and appropriate management of patients. Objective: The objective of this systematic literature review was to compile and analyze the ophthalmological manifestations associated with Patau Syndrome, providing a comprehensive view of the prevalence and types of ocular anomalies observed in diagnosed patients. Methodology: The methodology was structured according to the PRISMA checklist. Searches were performed in the PubMed, Scielo and Web of Science databases, using five descriptors: "Patau Syndrome", "ophthalmologic manifestations", "ocular abnormalities", "trisomy 13" and "ocular development". The search was restricted to articles published in the last ten years. Inclusion criteria included studies that specifically addressed ophthalmologic manifestations of the syndrome, peer-reviewed articles and those that presented relevant clinical data. Exclusion criteria considered duplicate articles, publications not in English or Portuguese and studies that did not focus on ophthalmologic aspects. Results: The review revealed that the most frequent ophthalmologic manifestations in Patau Syndrome include microphthalmia, colobomas and cataracts. The findings suggest a correlation between the severity of ocular abnormalities and the presence of other comorbidities associated with the syndrome, indicating a pattern of impairment that can vary widely among patients. The literature also highlighted the importance of regular ophthalmologic examinations and early interventions. Conclusion: Patau syndrome presents a diverse range of ophthalmologic manifestations, which are crucial for the diagnosis and management of patients. Understanding these abnormalities allows for more effective follow-up and targeted interventions, emphasizing the need for a multidisciplinary approach to the treatment of affected individuals.