Bilateral uveal coloboma in combination with a systemic syndrome – a case report

Coloboma of the uvea is a relatively rare ophthalmic entity, which occurs as a result
of a disturbance in the process of closing the embryonic optic fissure. It can be hereditary,
sporadic or part of systemic syndromes. Each of the structures of the uveal tract, alone or
together, unilaterally or bilaterally, can have the presence of a coloboma. In this paper, we
describe the case of a 9-year-old girl with bilateral coloboma and accompanying ectrodactyly
of the lower limbs, probably as part of a syndrome - Ectrodactyly-ectodermal dysplasia-cleft
syndrome. The patient is regularly monitored with biomicroscopic and funduscopic
examination supplemented with posterior optical coherence tomography and perimetry, with
the aim of timely recognition of possible ophthalmic complications.