X-LINKED JUVENILE RETINOSCHISIS ASSOCIATED WITH AN RS1 IN-FRAME DELETION AND BILATERAL CENTRAL SEROUS...

To report the case of a patient with X-linked juvenile retinoschisis, caused by an in-frame deletion of the RS1 gene, who presented with visual loss because of bilateral central serous chorioretinopathy.

Observational case report.

A 34-year-old man, with type-A personality, presented with a one-month history of decreased visual acuity and metamorphopsia in his right eye. Funduscopic examination showed a dome-like foveal elevation in both eyes as well as subtle pigmentary changes of the retinal pigment epithelium with a tapetal reflex in the fovea. Spectral-domain optical coherence tomography revealed intraretinal cystic foveal changes and serous retinal detachment in both eyes. Fundus fluorescein angiography of both eyes showed a focal area of intense hyperfluorescence with leakage in late phases. Electroretinogram revealed a markedly attenuated b-wave and a diminished a-wave in photopic and scotopic phases. Genetic testing revealed a hemizygous c.282_284delCTT deletion in the RS1 gene, predicting a p.Ser95del change at the protein level. The patient was diagnosed with X-linked juvenile retinoschisis and central serous chorioretinopathy as a coexisting condition. Patient was observed during a 3-month period but showed no improvement. Therefore, subthreshold micropulse laser was applied, achieving complete resolution of signs and symptoms of central serous chorioretinopathy.

Central serous chorioretinopathy can be a cause of acute or subacute visual loss in patients with X-linked juvenile retinoschisis when other complications such as vitreous hemorrhage and retinal detachment have been excluded.