Cataract in early onset and classic Cockayne syndrome

To describe cataracts in classic and early onset Cockayne syndrome (CS). Classic CS typically has an onset after the first year of life; intrauterine growth failure and severe neurologic dysfunction from birth distinguishes the less common early onset CS from the classic form.

A complete ophthalmic evaluation was performed in four affected patients, one with the early onset and three with classic CS.

We report cataract in all patients and glaucoma in one, the latter never previously reported in CS.

CS should be considered in babies with low birth weight and congenital cataract.