Utility of optical coherence tomography in a case of bilateral congenital macular coloboma
| Autor: | Olga García García, José Enrique Muñoz de Escalona Rojas, Aurora Quereda Castañeda |
|---|---|
| Přispěvatelé: | [Munoz de Escalona Rojas, Jose Enrique] Publ Hlth Agcy Hosp de Poniente, Dept Ophthalmol, El Ejido, Almeria, Spain, [Quereda Castaneda, Aurora] Publ Hlth Agcy Hosp de Poniente, Dept Ophthalmol, El Ejido, Almeria, Spain, [Garcia Garcia, Olga] Catholic Univ Murcia, Dept Nursing, Murcia, Spain |
| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
Pathology medicine.medical_specialty Visual acuity Renal Tubular Transport Inborn Errors genetic structures Adolescent Visual Acuity Gene mutation Brief Communication Blindness Cataract Retina Claudin-19 03 medical and health sciences 0302 clinical medicine Optical coherence tomography lcsh:Ophthalmology nephrocalcinosis Medicine Humans Hypercalciuria Macula Lutea optical coherence tomography medicine.diagnostic_test business.industry Choroid Macular coloboma Eye Diseases Hereditary medicine.disease eye diseases Coloboma Ophthalmology medicine.anatomical_structure renal hypomagnesemia with ocular involvement lcsh:RE1-994 030221 ophthalmology & optometry sense organs Nephrocalcinosis medicine.symptom business 030217 neurology & neurosurgery Tomography Optical Coherence |
| Zdroj: | Indian Journal of Ophthalmology Indian Journal of Ophthalmology, Vol 64, Iss 9, Pp 683-685 (2016) |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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