Comments and Conclusions
- Ocular colobomas are malformations resulting from defects in the closure of the optic cup fissure during embryogenesis, which may lead to structural defects in an inferonasal location involving the iris, ciliary body, lens, choroid, retina and optic nerve.1
- The most frequently observed ocular coloboma is seen in the inferonasal quadrant3 such as in the case presented.
- Optic nerve pits, the morning glory syndrome, and the congenital tilted disc syndrome have been considered variants of the process that produces typical colobomas.4 These congenital conditions collectively have been referred to as Cavitary Optic Disc Anomalies.1
- The colobomatous defect may involve the entire disc or just the inferior pole. 5
- Colobomata in other quadrants are atypical and the embryologic basis for these is unclear.3
- High resolution OCT scanning reveals a schisis underlying the disc coloboma without maculopathy such as in this case.
- Systemic anomalies are found almost exclusively in patients with bilateral ocular colobomatous changes rather than in unilateral cases. 5
- The etiology of ocular coloboma may be divided into hereditary and non-hereditary causes.5
- The Gene associated with the heritable form of cavitary anomalies of the optic disk has been localized to chromosome 12q. 1
- Based upon the newly discovered schisis approaching the macula and the large inferior schisis that could potentially lead to a retinal detachment, our patient deserves careful follow-up.