Ocular coloboma combined with cleft lip and palate: a case report.
BMC Ophthalmol
; 20(1): 418, 2020 Oct 19.
Article
em En
| MEDLINE
| ID: mdl-33076860
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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Disco Óptico
/
Coloboma
/
Fenda Labial
/
Fissura Palatina
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article