The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), caused by mutations in COL2A1 and COL11A1 respectively. Snowflake vitreoretinal degeneration (SVD) is associated with a mutation in a KCNJ13, and Wagner syndrome (WGVRP) with mutations in CSPG2. Knobloch syndrome (KNO) may also be caused by mutations in a collagen gene, COL18A1. In addition to Stickler syndrome and other chondrodysplasias, enhanced S-cone syndrome (ESCS) and autosomal dominant vitreoretinochoroidopathy (VRCP) are associated with vitreoretinal degeneration.
Richards AJ, Yates JR, Williams R, Payne SJ, Pope FM, Scott JD, Snead MP
タイトル
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome).
