Muñoz de Escalona Rojas José Enrique, Quereda Castañeda Aurora, García García Olga
Department of Ophthalmology, Public Health Agency Hospital de Poniente, El Ejido, Almería, Spain.
Department of Nursing, Catholic University of Murcia, Murcia, Spain.
Indian J Ophthalmol. 2016 Sep;64(9):683-685. doi: 10.4103/0301-4738.194331.
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.
黄斑缺损是黄斑区视网膜和脉络膜的先天性缺陷。它可能由于子宫内炎症或发育异常而出现。家族性低镁血症伴高钙尿症和肾钙质沉着症（FHHNC）是肾小管畸形的结果。它与眼部表现的合并可能具有遗传性，特别是在紧密连接蛋白19（CLDN - 19）基因突变的情况下。这些患者并不总是同时出现FHHNC和眼部表现。光学相干断层扫描（OCT）通过使我们能够在无需组织学检查的情况下评估和确认视网膜各层的缺失，帮助我们诊断这种情况。虽然诊断CLDN - 19基因突变需要进行基因检测，但在我们的病例中，对于诊断患有黄斑缺损的FHHNC患者并不需要进行基因检测，因为通过OCT已经准确地确定了眼部损伤的诊断。
