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<p>X-linked juvenile Retinoschisis (XLRS) is a hereditary vitreoretinal dystrophy characterized by schisis-like retinal splitting at the posterior pole with variable involvement of the peripheral retina. Additional funduscopic findings may include a golden metallic fundus reflex and, less commonly, other retinal abnormalities. The disease is caused by pathogenic variants in the RS1 gene. It follows an X-linked recessive inheritance pattern, resulting in clinical manifestation almost exclusively in males. XLRS typically manifests in early childhood as non-specific visual impairment. If XLRS is suspected, early retinal imaging using OCT should be performed. Therapeutic approaches primarily involve carbonic anhydrase inhibitors. Gene therapy represents a potential causal treatment option.</p>

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X-chromosomale juvenile Retinoschisis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月28日

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  • Patrick Schernthaner

摘要

X-linked juvenile Retinoschisis (XLRS) is a hereditary vitreoretinal dystrophy characterized by schisis-like retinal splitting at the posterior pole with variable involvement of the peripheral retina. Additional funduscopic findings may include a golden metallic fundus reflex and, less commonly, other retinal abnormalities. The disease is caused by pathogenic variants in the RS1 gene. It follows an X-linked recessive inheritance pattern, resulting in clinical manifestation almost exclusively in males. XLRS typically manifests in early childhood as non-specific visual impairment. If XLRS is suspected, early retinal imaging using OCT should be performed. Therapeutic approaches primarily involve carbonic anhydrase inhibitors. Gene therapy represents a potential causal treatment option.