Ocular coloboma combined with cleft lip and palate: a case report
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CASE REPORT
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Ocular coloboma combined with cleft lip and palate: a case report Yung Ju Yoo1, Sang Beom Han1*, Hee Kyung Yang2 and Jeong-Min Hwang2
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. Keywords: Coloboma, Optic fissure closure, Cleft lip, Cleft palate, Case report
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]. It occurs due to abnormal fusion of the embryonic optic fissure, which is normally completed by the sixth week of gestation [2, 3]. Several studies have demonstrated that thalidomide, maternal vitamin A deficiency, toxoplasmosis, and cytomegalovirus infection can result in this condition [1]. Ocular coloboma may be associated with other developmental abnormalities, and there is a rare case of branchio-oculo-facial syndrome in which * Correspondence: [email protected] 1 Department of Ophthalmology, Kangwon National University Hospital, Kangwon National University School of Medicine, 156 Baengnyeong-ro, Chuncheon 24289, South Korea Full list of author information is available at the end of the article
ocular coloboma, CL/P, branchial arches, and facial malformation are combined [4]. Although rarely reported, CL and choroidal coloboma can occur along with hypothalamopituitary dysfunction [5]. To the best of our knowledge, no study has reported ocular coloboma along with CL/P in a patient without other neurological abnormalities. Here, we report a recently encountered case of unilateral ocular coloboma with CL/P and without other systemic abnormalities.
Case presentation A 5-year-old Asian boy presented with decreased visual acuity in his right ey
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