COL2A1 and osteoarthritis: Except the familiar symptoms in eye such as high myopia, vitreoretinal degeneration, retinal detachment (RD) and cataracts, in some cases STL1 also showed short stature, scoliosis/kyphosis, joint hypermobility /osteoarthritis, cleft palate, midfacial hypoplasia and some degree of deafness.2, 3 Nonsyndromic ocular STL1 is a subgroup of STL1 and is characterized by predominantly ocular features with absent or minimal extraocular abnormalities.4