An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

X-linked retinoschisis (XLRS) is the leading cause of juvenile macular degeneration in men. The disorder is associated with mutations in the RS1 gene. The usual clinical presentation is with reduced visual acuity, strabismus, or less commonly vitreous haemorrhage. The macula typically has a stellate appearance resulting from microcystic spaces radiating from the fovea and peripheral schisis is present in about 50% of cases. Macular atrophy often develops with age. Abnormal pigmentation, subretinal fibrosis, peripheral white flecks and white dots at the macula have also been described. Ocular coherence tomography (OCT) usually reveals cyst formation and intraretinal cleavage. Full-field electroretinograms (ERGs) typically show evidence of generalised inner retinal dysfunction. In this report, we describe a child with an RS1 mutation and an unusual inner retinal sheen with none of the typical fundus features or OCT findings associated with XLRS.