دورية أكاديمية
Unusual clinical phenotype of Stargardt disease ; Fenótipo clínico incomum da doença de Stargardt
| العنوان: | Unusual clinical phenotype of Stargardt disease ; Fenótipo clínico incomum da doença de Stargardt |
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| المؤلفون: | Molina-Solana, Pedro, Morillo-Sánchez, María José, Méndez-Vidal, Cristina, Ramos-Jiménez, Manuel, Domínguez-Serrano, Francisco de Borja, Antiñolo, Guillermo, Rodríguez-de-la-Rúa-Franch, Enrique |
| المساهمون: | Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Junta de Andalucía, Fundación Isabel Gemio |
| بيانات النشر: | Conselho Brasileiro de Oftalmologia |
| سنة النشر: | 2021 |
| المجموعة: | Digital.CSIC (Consejo Superior de Investigaciones Científicas / Spanish National Research Council) |
| مصطلحات موضوعية: | Stargardt disease/diagnosis, Retinal dystrophies, ATP-binding cassette transporter, Subfamily A, Member 4, Tomography, Optical coherence, Electroretinography, Fluorescein angiography, Doença de Stargardt/diagnóstico, Distrofias retinianas, Membro 4 da Subfamília A de transportadores de cassetes de ligação de ATP, Tomografia de coerência óptica, Eletrorretinografia, Angiofluoresceinografia |
| الوصف: | [EN] Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies. ; [PT] Mutações no gene ABCA4 são causa comum da doença de Stargardt, mas outros fenótipos da retina também foram associados a mutações nesse gene. Apresentamos um relato de caso observacional de um fenótipo clínico incomum da doença de Stargardt. O exame oftalmológico incluiu a acuidade visual com melhor correção, fotografia em cores e com autofluorescência, angiofluoresceinografia, tomografia de coerência óptica e testes de eletrofisiologia. Na paciente em questão, realizou-se o sequenciamento de próxima geração de 99 genes associados a distrofias ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| تدمد: | 0004-2749 |
| العلاقة: | Publisher's version; http://dx.doi.org/10.5935/0004-2749.20210064Test; Sí; Arquivos Brasileiros de Oftalmologia 84(4): 391-394 (2021); http://hdl.handle.net/10261/265509Test; http://dx.doi.org/10.13039/501100011011Test; http://dx.doi.org/10.13039/501100003329Test; http://dx.doi.org/10.13039/501100004587Test; http://dx.doi.org/10.13039/501100000780Test |
| DOI: | 10.5935/0004-2749.20210064 |
| DOI: | 10.13039/501100011011 |
| DOI: | 10.13039/501100003329 |
| DOI: | 10.13039/501100004587 |
| DOI: | 10.13039/501100000780 |
| الإتاحة: | https://doi.org/10.5935/0004-2749.20210064Test https://doi.org/10.13039/501100011011Test https://doi.org/10.13039/501100003329Test https://doi.org/10.13039/501100004587Test https://doi.org/10.13039/501100000780Test http://hdl.handle.net/10261/265509Test |
| حقوق: | open |
| رقم الانضمام: | edsbas.59396208 |
| قاعدة البيانات: | BASE |
| تدمد: | 00042749 |
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| DOI: | 10.5935/0004-2749.20210064 |