Utility of optical coherence tomography in a case of bilateral congenital macular coloboma

Abstract

Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination. Although genetic testing is necessary to diagnose mutational alterations of the CLDN-19 gene, in our case, it was not necessary to diagnose the FHHNC patient with macular coloboma, since the diagnosis of ocular damage had been already accurately established by the OCT.

Figure 1

Ocular fundus of the right eye, there is a lesion occupying the macular region (it is seen through the lens opacities)

Figure 2

Ocular fundus of the left eye, there is a lesion occupying the macular region that simulates an area of atrophy or scarring

Figure 3

In the optical coherence tomography of the right eye we can find neurosensory retina atrophy and bare sclera with the absence of choroidal vessels

Figure 4

In the optical coherence tomography of the left eye we can find the lesion with the shape of a cup and with the complete absence of retina and choroid