Long‐term evolution of juvenile X‐linked retinoschisis

• Published in: Acta ophthalmologica (Oxford, England) England), 2022-01, Vol.100 (S267), p.n/a
• Main Authors: Boned‐Murillo, Ana, Dolores Diaz, Maria, El Bakkali, Ismael Bakkali, Pérez Rivasés, Guillermo, Cisneros, Pablo, Núñez Moscarda, Eva Josefina, Orejudo Derivas, Marta, Ascaso, Francisco, Pinilla Lozano, Isabel
• Format: Article
• Language: English
• Subjects: Acuity; Atrophy; Cysts; Evolution; Eye; Gene therapy; Macular degeneration; Nystagmus; Rare diseases; Retina; Retinoschisis; Strabismus; Tomography
• ISSN: 1755-375X; 1755-3768
• DOI: 10.1111/j.1755-3768.2022.219

Purpose To present long‐term evolution of congenital retinoschisis, also called juvenile or X‐linked retinoschisis (CXLRS), is a very rare disease with a prevalence of approximately 1: 120 000 and usually unknown, being one of the most common causes of macular degeneration in young men. It is a consequence of the mutation in the RS1 gene that encodes retinoschisis, manifesting with visual deficit, strabismus and nystagmus. In general, its evolution is rapid during the first five years of life, secondary to an increase in schisis, and later it slows down, in some cases the retinoschisis area may return partially spontaneously. Methods We report the case of a 32‐year‐old man diagnosed with X‐linked juvenile retinoschisis at 22 years of age in context of a possible convergent strabismus associated with hyperopia of +5.50 Right Eye (RE) and +6.50 Left Eye (LE). Results At the time of diagnosis of his disease, his corrected visual acuity (BCVA) was 20/40 in RE and 20/32 in LE. Radial distribution to the fovea macular cysts was observed in both eyes (OC), associated to macular area and the supero‐temporal quadrant RE retinoschisis and LE macula and the superior and temporal quadrants of the peripheral retina retinoschisis. Optical coherence tomography (OCT) reveals macular schisis that extends from the outer nuclear layer (NEC) to the outer plexiform layer (EPC) as well as a certain cystic component in OC. There was also an increased foveal autofluorescence. Ten Years follow‐up was performed and nowadays his BCVA is 20/50 in OC, with almost total regression of the macular cysts. Examination reveals the regression with foveal atrophy in OCT and an increase in the Foveal Avascular Zone (FAZ) AO in the OCT‐A. Conclusions Juvenile X‐linked retinoschisis is a slowly progressive condition. Optical coherence tomography (OCT) allows the study of retinoschisis in real time, being useful in the follow‐up and disease evolution. Although there is no current treatment, gene therapy could be a therapeutic option in the future.