A pediatric patient with a past medical history of Kawasaki disease presents for retinal evaluation of reported vitreous hemorrhage in the right eye and retinal detachment in the left eye. The visual acuity was 20/200 in the right eye and 20/800 in the left eye. The intraocular pressure was 14 mmHg in the right eye and 13 mmHg in the left eye. Examination under anesthesia (EUA) was scheduled. The anterior segment was normal. The dilated fundus examination showed clear vitreous and large mid-peripheral schisis cavities in both eyes. There was a macular fold in the left eye. The retina was attached in both eyes. Fluorescein angiography (FA) showed anomalous retinal vessel course and architecture in both eyes and late leakage from small peripheral vessels. The patient was observed without treatment and underwent genetic testing which was positive for a pathologic variant of the retinoschisin 1 gene. At follow-up EUA, there was continued vascular leakage in the left eye and intravitreal bevacizumab was administered. Juvenile X-linked retinoschisis is an inherited disease resulting in macular and peripheral schisis in young male patients. Complications of the disease include macular atrophy, vitreous hemorrhage, rhegmatogenous retinal detachment, and rarely neovascularization and neovascular glaucoma. Management depends on the disease manifestation, including topical carbonic anhydrase for macular edema and surgery for vitreous hemorrhage and retinal detachment. Clinical trials for gene therapy exist. FA has demonstrated several abnormalities of retinal vessels including extensive capillary drop-out, vessel leakage, and supernumerary vessels. This leads to the consideration of adding anti-VEGF to the treatment options. Further studies are needed to determine if this affects anatomical and visual outcomes in this disease.
Presentation Date: 03/30/2023
Issue Date: 04/14/2023