The ocular findings include high myopia, vitreoretinal degeneration, dislocated lenses, cataracts, and retinal detachment. Some patients have early onset (2-4 years old) night blindness and progress to total blindness before 20 years of age. Nystagmus, strabismus, small optic discs, glaucoma, and cataracts have been reported. Poor vision and progressive loss of acuity are common. The vitreous appears to be condensed into sheets and there may be distortion of the vitreoretinal interface with irregular white dots and lines. Pigmentary changes are common in the retina which some have described as consistent with choroidal sclerosis and chorioretinal atrophy. Atrophic changes are often seen in the macula.
