RT Journal Article
T1 Utility of optical coherence tomography in a case of bilateral congenital macular coloboma
A1 Munoz de Escalona Rojas, Jose Enrique
A1 Quereda Castaneda, Aurora
A1 Garcia Garcia, Olga
K1 Macular coloboma
K1 nephrocalcinosis
K1 optical coherence tomography
K1 renal hypomagnesemia with ocular involvement
K1 Claudin-19
AB 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.
PB Medknow publications & media pvt ltd
SN 0301-4738
YR 2016
FD 2016-09-01
LK http://hdl.handle.net/10668/19355
UL http://hdl.handle.net/10668/19355
LA en
DS RISalud
RD Apr 20, 2025