Optic nerve hypoplasia in chondrodysplasia punctata.

A case of optic nerve hypoplasia in the Conradi-Hunermann form of chondrodysplasia punctata is reported. This is the first published report of such a case. The authors suggest that optic nerve hypoplasia in chondrodysplasia punctata may be the significant lesion of the optic nerve rather than atrophy as has been previously reported.