High myopia and vitreous degeneration dominate the ocular manifestations of Stickler syndrome, type I. The vitreous often appears optically empty as it liquefies and the fibrils degenerate. The vitreous is sometimes seen to form 'veils', especially in the retrolenticular region but they may also float throughout the posterior chamber. They are often attached to areas of lattice degeneration in the retina as well as other areas. Posterior vitreous detachments are common. Vitreoretinal degeneration is progressive and by the second decade rhegmatogenous detachments occur in half of affected patients. As many as three quarters of adult patients have retinal breaks. The retina has pigmentary changes with deposition circumferentially near the equator and more peripherally. Hypopigmentation is more common early creating a tessellated appearance. Lenticular opacities occur also early with cortical flecks and wedge-shaped changes.
The ERG may be normal early but evidence of rod and cone dysfunction soon appears and is progressive. Dark adaptation is defective later in the course of the disease. The EOG is virtually always depressed. The visual field is constricted and may show a ring scotoma coincident with the equatorial chorioretinal atrophy.
Glaucoma is not uncommon and may be infantile in onset and difficult to control.
Phthisis is a significant risk especially for individuals who have multiple surgical procedures for retinal detachments.