# Iridochorioretinal coloboma associated with buried optic nerve drusen: a case report

## TL;DR

This case report describes a rare instance of iridochorioretinal coloboma linked to buried optic nerve drusen, highlighting the importance of advanced imaging for accurate diagnosis.

## Contribution

The paper presents a rare case linking iridochorioretinal coloboma with buried optic nerve drusen in the absence of systemic disease.

## Key findings

- Multimodal imaging confirmed bilateral buried optic nerve head drusen in a patient with irido-chorioretinal coloboma.
- The association between iridochorioretinal coloboma and optic nerve drusen is exceptionally rare.
- Proper diagnosis of buried optic nerve drusen requires high-resolution imaging techniques.

## Abstract

Improper closure of the embryonic fissure results in ocular coloboma. Optic nerve
head drusen are hyaline deposits located anterior to the lamina cribosa that
grow and calcify over time. It is rarely associated with ocular coloboma, with
only two cases reported. We present a patient with an irido-chorioretinal
coloboma, poorly defined optic nerve limits in the right eye, and increased
papillary vascular ramification and peripapillary atrophy in the left eye,
without any visible drusen. Fundus autofluorescence, high-resolution optical
coherence tomography, and B-scan ultrasonography confirmed the diagnosis of
bilateral buried optic nerve head drusen. The association between
irido-chorioretinal colobomas and optic nerve drusen in the absence of a
systemic disease is exceptional. Our case demonstrates that multimodal imaging
is important to correctly diagnose buried optic nerve head drusen.