Coloboma of the retina, choroid and iris co‑existing with cardiac & skeletal anomalies in a male Nigerian: a case of Noonan syndrome

Abstract

A 19‑year‑old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best‑corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o’clock position. Binocular indirect ophthalmoscopy of the right eye revealed a pink disc, normal vessels and macula, lattice degeneration with retinal holes, and a flat retina. The left eye had a pink disc, normal macula and vessels with an inferior arc‑shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low‑set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan‑systolic murmur was present on cardiovascular examination.