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Updated: Jan 27, 2026

Implantation of Total Artificial Heart in Congenital Heart Disease
Published on: July 18, 2014
[Congenital abnormalities of the optic disc]
D Denis1, J Hugo1, M Beylerian1
1Service d'ophtalmologie, hôpital Nord, centre hospitalier universitaire de l'hôpital Nord, chemin des Bourrely, 13015 Marseille, France.
Congenital optic disc abnormalities are common and require recognition. Early identification of these conditions is crucial for managing associated visual defects and preventing vision loss.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Congenital optic disc abnormalities are frequently encountered in clinical practice.
- These anomalies encompass a range of conditions affecting optic disc size, structure, and appearance.
Purpose of the Study:
- To review and categorize congenital abnormalities of the optic disc.
- To highlight potential complications and associated systemic conditions.
- To emphasize the importance of recognizing these abnormalities for appropriate patient management.
Main Methods:
- Literature review of congenital optic disc anomalies.
- Categorization based on size, excavation, and other features.
- Discussion of associated syndromes, neurological diseases, and ophthalmological defects.
Main Results:
- Identified optic disc abnormalities include aplasia, hypoplasia, megalopapilla, morning glory disc anomaly, optic disc pit, papillorenal disc, coloboma, tilted disc syndrome, duplicity, pigmentation, and myelinated nerve fibers.
- These conditions can lead to serous retinal detachment, choroidal neovascularization, and retinal detachment.
- Association with syndromes, neurological diseases, amblyopia, strabismus, and nystagmus is common.
Conclusions:
- Recognition of congenital optic disc abnormalities is essential for clinical practice.
- Appropriate follow-up and management are necessary to prevent secondary vision loss and complications.
- Early diagnosis aids in identifying potential systemic associations.
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