| Abstract [eng] |
Congenital optic nerve disc anomalies are rare, but clinically important conditions that can significantly affect a patient’s vision and overall quality of life. This review explores their causes, prevalence, diagnostic techniques, and treatment approaches. The aim of this review is to examine and summarize current information about congenital optic nerve disc anomalies, their clinical relevance, and current strategies for diagnosis and treatment. The following objectives were set: 1. To describe the structure, function, and embryological development of the optic nerve disc; 2. To explore the classification and pathogenesis of the most common or most explored congenital anomalies of the optic nerve disc; 3. To review the main diagnostic methods and assess their effectiveness in detecting these conditions; 4. To evaluate available treatment considering the type of anomaly and its potential impact on vision. This literature review draws from recent scientific publications, focusing on well-known and widely studied congenital optic nerve disc anomalies, such as optic nerve aplasia, optic nerve coloboma, morning glory disc anomaly, optic nerve hypoplasia, optic disc drusen and tilted optic disc. This review highlights that these anomalies can range from being completely asymptomatic or causing varying degrees of visual impairment. Key diagnostic tools include ophthalmoscopy, magnetic resonance imaging, optical coherence tomography, ultrasound, and genetic testing. Treatment options vary depending on specific anomaly - while some cases require only observation, others may benefit from optical, pharmaceutical, or surgical interventions. Conclusion: Early and accurate diagnosis is crucial to better understanding the prognosis and minimizing long-term visual complications. Continued research in this field can help develop more effective treatment options and ultimately improve patients' quality of life. Keywords: optic nerve aplasia, optic nerve hypoplasia, morning disc glory anomaly, optic nerve coloboma, optic disc drusen, tilted optic disc syndrome. |
