Ocular coloboma combined with cleft lip and palate: a case report.

Abstract:

BACKGROUND:Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Further, cleft lip/palate (CL/P), a congenital midline abnormality, is caused by a defect in the fusion of the frontonasal, maxillary, and mandibular prominences. No study has reported the association between these two phenotypes in the absence of other systemic abnormalities. We present a case of ocular coloboma along with CL/P and without other neurological abnormalities. CASE PRESENTATION:A 5-year-old Asian boy presented with decreased visual acuity in his right eye. Physical examination revealed no abnormal findings except CL/P, which was surgically corrected at the age of 9 months. Best-corrected visual acuity was 20/60 in the right eye and 20/25 in the left eye. Anterior segment examination revealed iris coloboma in the inferior quadrant of his right eye as well as a large inferonasal optic disc and chorioretinal coloboma in the same eye. He was prescribed glasses based on his cycloplegic refractive errors and part-time occlusion of the left eye was recommended. After 3 months, best-corrected visual acuity improved to 20/30 in the right eye. CONCLUSION:The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.

journal_name

BMC Ophthalmol

journal_title

BMC ophthalmology

authors

Yoo YJ,Han SB,Yang HK,Hwang JM

doi

10.1186/s12886-020-01696-3

subject

Has Abstract

pub_date

2020-10-19 00:00:00

pages

418

issue

1

issn

1471-2415

pii

10.1186/s12886-020-01696-3

journal_volume

20

pub_type

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