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Ocular coloboma combined with cleft lip and palate: a case report
Yung Ju Yoo1, Sang Beom Han2, Hee Kyung Yang3
1Department of Ophthalmology, Kangwon National University Hospital, Kangwon National University School of Medicine, 156 Baengnyeong-ro, Chuncheon, 24289, South Korea.
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.
