Case report of a patient with bilateral optic nerve coloboma

Abstract

Coloboma is a congenital defect that can affect the anterior and posterior segment of one or both eyes and may cause visual impairment or can be associated with the rare but serious CHARGE (Coloboma of the eye, Heart defects, Atresia of the Nasal choanae, Retardation of growth and/or development, Genitourinary malformation Ear abnormalities and/or deafness) syndrome.

We present the case of a 10-year-old girl from a rural eye center in Kenya, who reported to the hospital for the first time with a smaller left eye and poor vision since birth. Her uncorrected visual acuity (UCVA) was 20/250 in the right eye (RE) and 20/400 in the left eye (LE). Examination revealed 15-degree esotropia in the LE, anisometropia, and bilateral coloboma. Systemic examination was normal. Best-corrected visual acuity (BCVA) was 20/60 in the RE with a refraction of +5.75/-0.50 × 112° and 20/150 in the LE with +4.50/-1.25 × 120°. Imaging with a Zeiss Clarus 700 fundus camera confirmed a larger chorioretinal coloboma in the LE, with no signs of retinal detachment. Genetic testing was not available. The patient was provided with spectacles and advised to have serial fundus photographs taken every six months at our center.

This case highlights the need to ensure the early diagnosis of coloboma and to assess for potentially life-threatening associations, such as CHARGE syndrome.