"HOURGLASS COLOBOMA": A CASE REPORT AND REVIEW OF ETIOPATHOGENESIS

Retin Cases Brief Rep. 2021 Jul 1;15(4):441-444. doi: 10.1097/ICB.0000000000000810.

Abstract

Purpose: To report a rare case of multiple fundal colobomata and to review the possible etiopathogenic factors involved in its genesis.

Method: Case report.

Result: A 21-year-old myopic lady was noted to have 2 fundal colobomata-one in the inferior and the other in superior hemisphere of globe in a mirror-image fashion resembling an "hourglass" in the right eye and a typical Type 3 coloboma in the left eye. The iris was normal in both the eye. Multiple fundal colobomata have not been described in the literature. The presence of "accessory embryonic fissure" in the developing eyeball is the only probable mechanism that can explain this presentation. This case is an evidence for the possibility of presence of accessory embryonic fissure in developing eyeball in human. The eponym "hourglass coloboma" or "mirror-image colobomata" best describes this condition.

Conclusion: This report of multiple fundal colobomata is the first of its kind. This case is an evidence for possibility of presence of accessory embryonic fissure in developing eyeball in human.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Coloboma* / diagnosis
  • Coloboma* / etiology
  • Female
  • Humans
  • Retinal Diseases* / diagnosis
  • Retinal Diseases* / etiology
  • Young Adult