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.

Refractive Errors and Strabismus In Patients with Orofacial Clefts

“…These changes were observed in patients with CL/CLP without systemic or neurological involvement, excluding syndromic associations. The chief complaint of these patients was low visual acuity reported or observed in an ophthalmic examination, reinforcing the importance of ophthalmic follow-up, early diagnosis, and immediate intervention for a good visual prognosis [4,6].…”

“…In the study by Anchlia et al [3] Previously published case reports describe ocular abnormalities in patients with orofacial clefts, resulting from the abnormal fusion of the embryonic optic fissures, such as ocular coloboma, ectopia lentis, ectopia pupillae, and bilateral optic disc pit with maculopathy [4,6]. These changes were observed in patients with CL/CLP without systemic or neurological involvement, excluding syndromic associations.…”

Non-nasal, atypical retinochoroidal coloboma in pediatric patients: Case series and review

“… 2 Vitamin A deficiency, maternal diabetes, maternal hypothyroidism, and numerous pharmaceutical agents have been associated with sporadic coloboma formation. 2 , 11 …”

Bilateral Iris Coloboma in an 11-Year-Old Child with Low Vision and High Intraocular Pressure: A Rare Case Report and Review of Literature

“…6 Previous studies have found mutations in various genes associated with microphthalmia, anophthalmia, and coloboma (MAC) phenotypes. 7 Typical iris and retinochoroidal coloboma is a relatively common finding which results from the failure of choroidal fissure closure when the embryogenesis is complete in the first three months of gestational life. 8 However, in our case, except for iris coloboma with high intraocular pressure, no other abnormalities were found in the posterior segment of the eye.…”