Analysis of microstructural changes in an X-linked juvenile retinoschisis patient harboring RS1 G668A mutation by en-face optical coherence tomography imaging

Abstract

Juvenile X-linked retinoschisis (JXLR) is an X-linked recessive retinal dystrophy caused by retinoschisin (RS1) gene mutations. The current study reports and describes the cumulative findings of en-face OCT for a 7-year-old JXLR patient harboring a hemizygous pathogenic RS1 mutation (c.G668A; p.Cys223Tyr), where residue 223 is vital for cellular adhesion. Fundoscopy showed cart-wheel appearance at macula. Further, en-face OCT revealed characteristic schitic lesions in the ganglion cell layer, inner plexiform layer, inner nuclear layer, and outer plexiform layer. Our report adds to the Indian RS1 mutation spectrum and casts insights into the schisis microstructure using en-face imaging.