High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report

BACKGROUND: Congenital mydriasis and retinal arteriolar tortuosity are associated with the life-threatening multisystemic smooth muscle dysfunction syndrome (MSMDS) due to mutations in the gene, ACTA2, which encodes alpha-smooth muscle actin (α-SMA). Previous reports attributed MSMDS-related congeni...

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Detalles Bibliográficos
Autores principales: Mc Glacken-Byrne, Aisling B., Prentice, David, Roshandel, Danial, Brown, Michael R., Tuch, Philip, Yau, Kyle S.-Y., Sivadorai, Padma, Davis, Mark R., Laing, Nigel G., Chen, Fred K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038593/
https://www.ncbi.nlm.nih.gov/pubmed/32093627
http://dx.doi.org/10.1186/s12886-020-01344-w

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