Optical features include an optically empty vitreous cavity that
is pervaded by a few vitreous fibers or membranes, narrow and sheathed
retinal vessels, pigment spots in the peripheral fundus or along the retinal
vessels, atrophy of the choroids, complicated cataract, myopia, concentric
contraction of the visual fields, and, in the advance stage, optic atrophy.
Others features involve the head (characteristic facies: epicanthus, broad
sunken nasal bridge, receding chin associated with micrognathia and cleft
palate). Accelerated growth occurs, together with skeletal abnormalities such as
broad proximal phalanges, broad middle phalanges, and genu valgum.