Five variations of crystallin (CRYBA1 c.552_557delinsGGAGG; p.(Cys185Glufs*33), CRYBA4 c.277 T > C; p.(Ser93Pro), CRYBB1 c.508G > T; p.(Asp170Tyr), CRYGD c.309dup; p.(Glu104Argfs*4), and CRYGD c.418C > T; p.(Arg140*)) caused total cataract with or without microphthalmia and nystagmus. This evidence concerns the gene CRYBA4 and microphthalmia.