Several large pedigrees have been reported in which both males and females had congenital miosis and decreased pupillary light responses. The pupils are about 2 mm in size and have been described as 'fixed' since they do not dilate in low light or constrict in bright light. They also do not respond well to mydriatics. Several individuals also had nystagmus and dysconjugate eye movements.
Optic atrophy is not a consistent feature although several in the original reported family were reported to have this feature which is often found in other spastic ataxia disorders, such as Friedreich's ataxia (229300).