RESUMO
X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in the RS1 gene. It usually manifests itself at a young age with symmetrical splitting within different layers of the retina and leads to a significant reduction in visual acuity. Correct diagnosis at older ages is difficult due to nonspecific changes in OCT scans. We report the morphological changes in OCT scans at different stages of life in a family with XLRS and a novel mutation in the RS1 gene. Our 78-year-old index patient presented with visual disturbances that he had experienced since his childhood. After a detailed anamnesis, complete clinical examination and measurement with SD-OCT, we performed germline genetic testing using whole blood DNA on the index patient, his clinically unaffected daughter and her clinically affected son. The OCT examination of the index patient showed nonspecific atrophic macular changes on both sides. A fundoscopy of the 8-year-old grandson showed the typical macular star pattern. The OCT scan showed the typical retinoschisis of the macula. The genetic analysis revealed the previously undescribed pathogenic variant c.487T>G; p.Trp163Gly in the RS1 gene in all 3 patients. The typical fundus image and OCT pattern, which are absent in the 78-year-old patient, are also present in childhood with the novel RS1 mutation. Our case shows that even with nonspecific changes in the OCT scans, a detailed family history can provide important information on X-linked recessive inheritance and thus for an appropriate molecular genetic diagnosis, so that rare retinal diseases can be diagnosed even at an advanced age.