• Zhiyan Tao, Shaochong Bu, and Fang Lu.
• Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, Sichuan Province.
• Medicine (Baltimore). 2021 Mar 5; 100 (9): e24633e24633.

RationaleFamilial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of Adams-Oliver syndrome (AOS) genes in FEVR patients have not been reported before.Patient ConcernsTwo patients with FEVR presented with microcephaly. One of them showed slight scarring of the scalp vertex which is a typical manifestation of AOS. The whole exon sequencing confirmed the diagnosis of AOS with 2 AOS-gene mutations at DOCK6 and ARHGAP31. Further clinical examination revealed that their parents with the same mutations showed FEVR-like vascular anomalies.DiagnosisBoth patients were diagnosed with AOS through whole exon sequencing, and they presented with some FEVR-like retinopathy including retinal detachment.InterventionsBoth patients received vitrectomy for tractional retinal detachment with proliferative vitreoretinopathy. During the follow-up, 1 patient received additional laser photocoagulation for tractional retinal detachment.OutcomesThe 2 patients remained stable in the latest follow up after the treatment.LessonsMicrocephaly could be associated with some form of retinopathy. We proposed that mutation of DOCK6 and ARHGAP31 genes could be the possible cause of FEVR associated with microcephaly. Our study suggested that these genes may be candidate genes of FEVR.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

27 keywords...

hide…