X‐linked retinoschisis

Abstract Purpose To expose a case of X‐linked retinoschisis and to correlate findings obtained by Optical Coherence Tomography (OCT) images with visual acuity and macular lesions. Methods We present a case report of a male child diagnosed of X‐linked Retinoschisis at the age of 6. About his family background, we know that his aunt has three sons diagnosed of the same disease. At the age of 18, his visual acuity was 0.5 for right eye and 0.1 for left eye by Snellen scale. The visual acuity did not change along all these years. Results Cystic appearing macular lesions were observed both clinically and by tomography images. Cystic spaces on the foveal region, (as the image of a “cart wheel”), and peripheral retinoschisis were observed in the fundus examination. Optical Coherence Tomography showed cystic foveal blocked images located within the inner nuclear layer. Conclusion The exposed disease has a very low prevalence (1 to 2 cases each 30000 inhabitants). The findings obtained by OCT images let make a diagnosis of localization within retina layers and also let follow up the macular lesions evolution.