Our clinicopathologic data in a familial case of juvenile retinoschisis are presented. The schisis is seen histologically as a splitting of the sensory retina, predominantly within the nerve fiber layer. This site of splitting differs from that observed in the typical case of senile retinoschisis, in which the splitting occurs in the middle layers of the sensory retina. The histologic appearance observed in juvenile retinoschisis, however, is quite similar to that found in nonfamilial cases of retinoschisis in infants. A brother of the patient also had bilateral juvenile retinoschisis. The patient's other six siblings (all male) and both parents are free of the disorder. To our knowledge, this is the first histopathologic report of familial juvenile retinoschisis in a well-documented case.
Yanoff M, Rahn EK, Zimmerman LE. Histopathology of Juvenile Retinoschisis. Arch Ophthalmol. 1968;79(1):49-53. doi:10.1001/archopht.1968.03850040051014