• Kaiqin She, Licong Liang, and Fang Lu.
• Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
• Medicine (Baltimore). 2021 Jun 4; 100 (22): e26094e26094.

RationaleMultisystemic smooth muscle dysfunction syndrome (MSMDS) is a genetic disease that affects multiple organs. The report here concerns a patient with MSMDS, who is known so far as the youngest among all the reported patients. In addition to the typical manifestations, we observed previously unreported ocular abnormalities, including persistent anterior tunica vasculosa lentis (TVL) and early-onset retinal arteriolar tortuosity, by the fluorescein angiography (FA).Patient ConcernsThe patient was admitted to the neonatal intensive care unit immediately after birth for a diagnosis of urinary system dysplasia during fetal life. After a thorough examination, the patient was found with patent ductus arteriosus, pulmonary hypertension, cerebrovascular disease, hypotonic bladder, intestinal malrotation, and congenital mydriasis. The FA of the eyes undertaken in her 6-week demonstrated perfused vasculature in the persistent anterior TVL and prominent retinal arteriolar tortuosity. The whole exome sequencing revealed a de novo heterozygous ACTA2 gene missense mutation p.R179H.DiagnosesThe patient was diagnosed with MSMDS.InterventionsFollow-up observation.OutcomesAt the 3-month follow-up, no change of the ocular disease was observed.LessonsThe persistent anterior TVL in this case implies that ACTA2 p.R179H mutation affects not only the smooth muscle cells but also the pericytes, and further affects the TVL regression. The prominent retinal arteriolar tortuosity in this 6-week-old infant indicates that the retinal arteriolar tortuosity can present early in MSMDS.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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