Lens development is abnormal from the beginning secondary to abnormal migration of lens epithelium which has been described in fetuses by 20-24 weeks of gestation. This leads to some degree of opacification in 100% of affected males. The lens opacities may be polar or nuclear in location but complete opacification also occurs. Leukocoria, miosis, microphthalmos and a shallow anterior chamber has been noted in neonates. The cataractous lenses may be small and abnormally formed. Glaucoma is present in more than half of affected males with onset by the age of 6 years and may be difficult to control. Conjunctival and corneal keloids are found in about one-fourth of patients.
Adult female carriers characteristically have peripheral cortical opacities, appearing in a radial configuration. These 'snowflake' opacities seldom cause visual symptoms. It has been proposed that slit lamp examinations for such opacities can accurately determine the carrier status of females.