Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review

Serena Shah; Natasha Ferreira Santos da Cruz; Patrick Staropoli; Francisco Lopez-Font; Ta Chen Peter Chang; Audina Berrocal

doi:10.1016/j.ajoc.2024.102015

Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review

Am J Ophthalmol Case Rep. 2024 Feb 9:34:102015. doi: 10.1016/j.ajoc.2024.102015. eCollection 2024 Jun.

Authors

Serena Shah¹, Natasha Ferreira Santos da Cruz¹, Patrick Staropoli¹, Francisco Lopez-Font¹, Ta Chen Peter Chang¹, Audina Berrocal¹

Affiliation

¹ Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine. 900 NW 17 Street, Miami, FL 33136, USA.

Abstract

Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population.

Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment.

Conclusions and importance: Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.

Keywords: Atypical coloboma; Pediatric retina; Retinal detachment; Retinochoroidal coloboma.

Publication types

Case Reports