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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. 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. The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.


Yung Ju Yoo, Sang Beom Han, Hee Kyung Yang, Jeong-Min Hwang. Ocular coloboma combined with cleft lip and palate: a case report. BMC ophthalmology. 2020 Oct 19;20(1):418

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PMID: 33076860

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