Abstract
BackgroundOcular 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 presentationA 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.ConclusionThe association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities.
Highlights
Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure
The association of ocular coloboma should be kept in mind when encountering a patient with cleft lip/palate (CL/P) without other neurological or systemic abnormalities
Ocular coloboma is characterized by the absence of the iris, lens, retina, choroid, and/or optic nerve in the inferonasal quadrant of the eye and has variable phenotypes [1]
Summary
Ocular coloboma is an excavation of ocular structures that occurs due to abnormal fusion of the embryonic optic fissure. Conclusion: The association of ocular coloboma should be kept in mind when encountering a patient with CL/P without other neurological or systemic abnormalities. Background Ocular coloboma is characterized by the absence of the iris, lens, retina, choroid, and/or optic nerve in the inferonasal quadrant of the eye and has variable phenotypes [1].
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