Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient
| العنوان: | Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient |
|---|---|
| المؤلفون: | Mireia López-Domínguez, Marta Martín-Sánchez, Manuel Ramos-Jiménez, María José Morillo-Sánchez, Guillermo Antiñolo, Marina Soto-Sierra, Enrique Rodríguez-de-la-Rúa, Beatriz Ponte-Zuñiga |
| المساهمون: | Soto-Sierra, Marina |
| المصدر: | European Journal of Ophthalmology. 32:NP77-NP81 |
| بيانات النشر: | SAGE Publications, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, genetic structures, Bestrophinopathies, General Medicine, BEST1 gene, Biology, eye diseases, Autosomal recessive bestrophinopathy, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, 0302 clinical medicine, BEST1, 030221 ophthalmology & optometry, Inherited retinal disease, Novel mutation |
| الوصف: | [Purpose] To describe the clinical and genetic characteristics (novel mutation in BEST1 gene) of a Spanish patient with autosomal recessive bestrophinopathy (ARB). [Methods] The 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. [Results] 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 in BEST1 (c.341_342del; p.(Leu114Glnfs*57)) was identified as the cause of the disease. [Conclusion] ARB is a genetic disease that leads to irreversible visual loss. In this report we found a novel mutation responsible for this disease. |
| تدمد: | 1724-6016 1120-6721 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b6b03c7aefce936e164383f3f367faTest https://doi.org/10.1177/11206721211010615Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....19b6b03c7aefce936e164383f3f367fa |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 17246016 11206721 |
|---|