Seven variants were not identified in a panel of at least 245 matched controls, including 2 missense variations, namely p.R133P and p.D141Y, each identified in one heterozygous patient. p.R133P was newly identified whereas p.D141Y was previously described in one homozygous sporadic ALS patient.
Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46*)) all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia).
Three children (two families; assessed at 2 years old) and two adults (one family; assessed at 24 and 35 years old) with homozygous PRPH2 mutations (c.497G>A (p.Cys166Tyr) or c.136C>T (p.Arg46*)) all had infantile nystagmus and decreased vision noted soon after birth and a history of staring at lights during infancy (photophilia).