Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.

Background/aims: Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC aetiology and comorbidities is essential to providing patients with appropriate care. However, current management is unstandardised and molecular diagnostic rates remain low, particularly in those with unilateral presentation.

Double limbal dermoid with Tessier's paramedian facial cleft.

We report the case of mandibulofacial dysostosis in a 9-year-old Indian boy presenting with unilateral double limbal dermoid in superotemporal and superonasal quadrants, high arched palate, and paramedian cleft in the right side of the nose with abnormal dentition. A multidisciplinary approach to treatment was advised. The dermoid cysts were excised surgically with a reconstruction of the ocular surface using multilayered amniotic membrane transplantation.