Retinoschisis in Congenital Hypopituitarism with Short Stature: A New Clinic Entity?

Herein we report a short stature man with unilateral retinoschisis associated with optic disc anomaly. The patient presented to our clinic after 5 years of gradually decreased vision in his right eye. He had flat retinoschisis with large round-shape break of the inner retinal layer in the right eye. There was also perifoveal retinoschisis. Fundus examination revealed peripapillary chorioretinal atrophy, tilted and hypoplastic optic disc, ‘frosted branch’ or ‘dragged’ appearance of temporal retinal vessels. SD-OCT revealed an unusual entity of retinoschisis likely connected to the optic disc anomaly. Our case does not show previously reported characteristics of the eye involvement with syndromic short stature, and may represent a new clinical entity.