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pro vyhledávání: '"Deirdre A. Harford"'
Autor:
Deirdre A. Harford, Conor Delaney, Jeffrey O'Callaghan, Natalie Hudson, Ruairi Connolly, Sarah Doyle, Michael Farrell, Colin P. Doherty, Mark Cahill, Matthew Campbell
Publikováno v:
Ophthalmic Surgery, Lasers and Imaging Retina. 52:666-671
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is caused by dominant-acting mutations in the gene colony-stimulating factor 1 receptor ( CSF1R ). It is an ultra-rare leukoencephalopathy that involves demyelination of
Publikováno v:
BMJ Case Rep
A 54-year-old woman presented with 7 days of monocular left blurred vision and floaters with best-corrected visual acuity (BCVA) of 6/15–2. She had no significant medical history. Headache was investigated elsewhere 4 weeks previously with negative