X-linked retinoschisis: a clinical and molecular genetic review
A Tantri, TR Vrabec, A Cu-Unjieng, A Frost… - Survey of …, 2004 - Elsevier
X-linked retinoschisis is a leading cause of macular degeneration in male children. It is
characterized by a high degree of clinical variability. Clinical features include a stellate
foveal retinoschisis, with or without peripheral retinoschisis. The schisis occurs within the
inner retina, primarily at the level of the nerve fiber layer. The disease-causing gene, X-
linked retinoschisis 1, has recently been identified, and is expressed in photoreceptor and
bipolar cells. This gene codes for retinoschisin, a secreted protein containing a discoidin …
characterized by a high degree of clinical variability. Clinical features include a stellate
foveal retinoschisis, with or without peripheral retinoschisis. The schisis occurs within the
inner retina, primarily at the level of the nerve fiber layer. The disease-causing gene, X-
linked retinoschisis 1, has recently been identified, and is expressed in photoreceptor and
bipolar cells. This gene codes for retinoschisin, a secreted protein containing a discoidin …