| Autor: |
Marina, Soto-Sierra, María José, Morillo-Sánchez, Marta, Martín-Sánchez, Manuel, Ramos-Jiménez, Mireia, López-Domínguez, Beatriz, Ponte-Zuñiga, Guillermo, Antiñolo, Enrique, Rodríguez-de-la-Rúa |
| Rok vydání: |
2021 |
| Předmět: |
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| Zdroj: |
European journal of ophthalmology. 32(5) |
| ISSN: |
1724-6016 |
| Popis: |
To describe the clinical and genetic characteristics (novel mutation inThe detailed ophthalmological examination included best corrected visual acuity (BCVA), color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system.A 55-year-old male presented with a BCVA of 20/25 in the right eye and 20/20 in the left eye. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence results were consistent with pattern dystrophy. A homozygous frameshift mutation inARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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