Background Retinitis pigmentosa (RP) is a genetic disorder with affected gene expressed in rod cells, ultimately leading to death or secondary degeneration of cone cells. Over 170 genes have been associated with RP, but little is known of HLA gene association. Research has suggested link between RP and other autoimmune diseases. MS is a known autoimmune disorder with most important genetic factor being HLA-DRB1*15:01. Primary angiitis of central nervous system is an autoimmune disorder of vessels leading to inflammation and ischaemia. Several genetic associations in the HLA region have been described with systemic vasculitides.
Methods 2 non-related patients with established retinitis pigmentosa and with similar neurological presentation and neuroimaging were reviewed. First patient diagnosed with primary angiitis of CNS was treated with Mycophenolate (steroid-sparing agent), second patient had rapidly evolving severe relapsing remitting MS treated with Natalizumab. Genetic analysis was performed by HLA typing and 170 retinal genes panel.
Results There was no genetic overlap in the positive retinal genes or HLA-A, B and DRB1 regions. Both patients expressed HLA-C*07 and HLA-DQB1*03 alleles. Patient with vasculitis expressed HLA- DRB1*15:01 and patient with MS expressed HLA-DRB1*03:01 and DRB1*04:04. Results suggest a possible link between RP and autoimmunity as both had HLA-C*07 and HLA-DQB1*03 alleles. Initially both patients were treated with steroids and had a good neurological response.
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