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Unusual clinical phenotype of Stargardt disease.
Molina-Solana, Pedro; Morillo-Sánchez, María José; Méndez-Vidal, Cristina; Ramos-Jiménez, Manuel; Domínguez-Serrano, Borja; Antiñolo, Guillermo; Rodríguez-de-la-Rúa-Franch, Enrique.
Afiliação
  • Molina-Solana P; Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain.
  • Morillo-Sánchez MJ; Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain.
  • Méndez-Vidal C; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
  • Ramos-Jiménez M; Rare Diseases Networking Biomedical Research Centre (CIBERER), Seville, Spain.
  • Domínguez-Serrano B; Department of Clinical Neurophysiology, University Hospital Virgen Macarena, Seville, Spain.
  • Antiñolo G; Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain.
  • Rodríguez-de-la-Rúa-Franch E; Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain.
Arq Bras Oftalmol ; 84(4): 391-394, 2021.
Article em En | MEDLINE | ID: mdl-34008801
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Cassetes de Ligação de ATP / Eletrorretinografia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Arq Bras Oftalmol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha País de publicação: Brasil
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transportadores de Cassetes de Ligação de ATP / Eletrorretinografia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Middle aged Idioma: En Revista: Arq Bras Oftalmol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Espanha País de publicação: Brasil