The role of sequence variations in genes encoding cartilage extracellular matrix (ECM) proteins were studied in osteoarthritis (OA) and multiple epiphyseal dysplasia (MED). The cartilage collagen genes COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, and COL11A2 were screened for sequence variations in 72 Finnish probands and one US family with primary early-onset hip and/or knee OA. Altogether 239 seq...

AIMS To compare the clinical and molecular genetic features of two phenotypically distinct subgroups of families with type 1 Stickler syndrome. BACKGROUND Stickler syndrome (hereditary arthro-ophthalmopathy, McKusick Nos 108300 and 184840) is a dominantly inherited disorder of collagen connective tissue, resulting in an abnormal vitreous, myopia, and a variable degree of orofacial abnormality...

Purpose : clinical and genetic research of primary chronic angle-closure glaucoma (PACG) age-related macular degeneration (AMD) for prospective pathogenetically-oriented targeted treatment these condition. Materials methods . 15 patients with isolated ocular proliferative syndrome were divided into 2 groups depending on their diagnosis: 1) 7 (14 eyes) aged 55 to 83 confirmed wet AMD (4 women 3 ...