Surgical repair of macular fold in X-linked retinoschisis initially misdiagnosed as familial exudative vitreoretinopathy

RETINAL Cases & Brief Reports(2024)

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摘要
Purpose: To describe the presentation and surgical management of a young boy initially thought to have familial exudative vitreoretinopathy who was ultimately diagnosed with an unusually aggressive form of X-linked retinoschisis that included rapidly progressive bullous retinoschisis and tractional macular fold. Methods: Retrospective case report Results: A 19-month-old boy with straightening of major arcades, peripheral retinal ischemia, and in the left eye, a large macular fold was initially diagnosed as familial exudative vitreoretinopathy. During follow-up, he developed a rapidly progressive bullous retinoschisis in the left eye involving the inferior macula extending superiorly up to the macular fold. This revised the working diagnosis to X-linked retinoschisis, which was confirmed by genetic testing. Pars plana vitrectomy, inner flap retinectomy, unrolling of the macular fold and inner flap retinectomy, and C3F8 gas tamponade were performed. This resolved the macular fold. The patient showed good anatomical results without surgical complications up to 18 months of post-operative follow-up. Conclusions: X-linked retinoschisis can rarely present in young children with macular fold and peripheral ischemia, mimicking familial exudative vitreoretinopathy. Rapidly progressive bullous retinoschisis in this setting can be treated with pars plana vitrectomy, inner wall retinectomy, and removal of the vitreous traction to improve visual prognosis.
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