| Abstract [eng] |
Hereditary vitreoretinopathies are a heterogeneous group of rare inherited diseases, the primary features of which are degeneration of the vitreous and retina. Some diseases, such as Wagner syndrome, X-linked juvenile retinoschisis, autosomal dominant vitreoretinochorioidopathy, autosomal dominant neovascular inflammatory vitreoretinopathy, enhanced S-cone syndrome and snowflake vitreoretinal degeneration, are characterised by ocular features only, while others can have even very severe systemic manifestations. Diseases with systemic manifestations include Stickler syndrome, which is a disorder of collagenous connective 1 tissue, familial exudative vitreoretinopathy, which can lead to bone disorders or deafness (and may or may not have systemic changes, depending on the genes involved), Norrie disease, which is often accompanied by hearing and mental disorders, Kniest dysplasia, which is characterised by chondrodysplasia, Knobloch syndrome, which is also characterised by bone diseases, abnormalities in brain development and pigment incontinence syndrome. Hereditary vitreoretinopathies are often characterised by abnormalities of the vitreous, macula, optic nerve disc and retinal detachment (Stickler syndrome is the most common cause of retinal detachment in children), these diseases can lead to blindness. Long-term monitoring of patients, preventive check-ups and prevention of complications are important for the control of vitreoretinopathies. Surgical treatment of retinal detachments, vitrectomy in the case of vitreous haemorrhage, and treatment of glaucoma and cataract are often necessary. Treatment with carbonic anhydrase inhibitors is used for macular edema. For Stickler and pigment incontinence syndromes, prophylactic retinal surgery may be used. |
