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

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

Abstract 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...

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Bibliographic Details
Main Authors: Aisling B. Mc Glacken-Byrne, David Prentice, Danial Roshandel, Michael R. Brown, Philip Tuch, Kyle S.-Y. Yau, Padma Sivadorai, Mark R. Davis, Nigel G. Laing, Fred K. Chen
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Ophthalmology
Subjects:
Congenital mydriasis
Retinal artery tortuosity
OCTA
Adaptive optics
MSMDS
Online Access:http://link.springer.com/article/10.1186/s12886-020-01344-w

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