A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

• Published in: Ophthalmic genetics 2022-12, Vol.43 (6), p.871-875
• Main Authors: Tondelli, Nathália Nishiyama, Mencaroni, Beatriz Mello, Lemos, Carolina Maria Barbosa, Rocha de Sousa, Jefferson, Sandoval Barbosa, Gabriel Castilho, Gomes, André Marcelo Vieira, da Palma, Mariana Matioli
• Format: Article
• Language: English
• Subjects: Eye Proteins - genetics; Fundus Oculi; Humans; Male; Retina; Retinal Detachment - diagnosis; Retinal Detachment - genetics; Retinal Diseases; Retinoschisis - diagnosis; Retinoschisis - genetics; Tomography, Optical Coherence
• ISSN: 1381-6810; 1744-5094
• DOI: 10.1080/13816810.2022.2154809

X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype. This is a case report of a patient diagnosed with XLRS who underwent ophthalmologic multimodal imaging and next-generation sequencing panel. The proband is a 14-year-old male patient who presented at Instituto Suel Abujamra with a history of Coats Disease in the right eye treated with retinal laser in both eyes two years ago. His best-corrected visual acuity was count finger at 1 foot in the right eye and 20/40 in the left eye. Fundus exam showed an extensive area of exudation and retinal detachment in the right eye and cystic change at the fovea in a spoke-wheel pattern in the left eye. The next-generation sequencing panel targeting inherited retinal diseases with 236 genes found a pathogenic hemizygous variant c.304C>T (p.Arg102Trp) in RS1 that has already been reported. The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.