Cortical Blindness in Systemic lupus erythematosus: A Blind Wolf
Maria Usman Khan1,2, Fahd Adeeb1,2, Joseph Devlin1, Alexander Fraser1,2
1. Department of Rheumatology, University Hospital Limerick, Limerick, Ireland 2. Graduate Entry Medical School, University of Limerick, Limerick, Ireland preprocess
Lupus is Greek for Wolf. Systemic lupus erythematosus (SLE) may present in such multi-systemic manifestations that it may be mistaken for other less dangerous disease entities, as a wolf in sheep’s clothing, and consequently when dealing with possible SLE a high index of suspicion is required. Cortical blindness (CB) is a rare, potentially devastating complication of SLE that refers to the loss of vision precipitated by a retrochiasmal lesion involving bilateral geniculocalcarine tracks in the brain with preservation of anterior visual pathways.
To our knowledge, isolated CB has never been described in the literature as the primary manifestation of SLE, although several cases have been reported in association with posterior reversible encephalopathy syndrome (PRES) and Anton syndrome. Our case highlights the diagnostic challenges of CB as an initial presentation of SLE patient as prompt management can impede permanent visual loss.
A 16-year-old girl presented with acute, painless, bilateral visual impairment on a background of intermittent painful swelling of her hands and in the absence of other ophthalmologic, systemic and neurological deficits or previous head-eye trauma. Past history was unremarkable for any vascular disease, eye-surgery or medication use. Blood pressure and heart rate were normal. Musculoskeletal exam showed bilateral tender metacarpophalangeal joints. Urgent ophthalmology review revealed reduced visual acuity of her right eye limited to hand movements and the left to only light perception. Her pupillary reflexes, cranial nerve exam including extra-ocular movements, slit-lamp exam and intraocular pressure were unremarkable. Her urgent MRI-brain including diffusion imaging was normal. Laboratory tests showed raised ESR (79 mm/hr) and the CRP (16 mg/L), mildly elevated creatinine, low C3-C4, hypoalbuminemia and IgG-hypergammaglobulinemia. Autoimmune panel showed positive ANA (titre 1/3200), anti-dsDNA, anti-histone and anti-Ro/SSA antibody while negative ANCA and antiphospholipid antibody. Urine analysis revealed leucocytes, microscopic hematuria and granular casts. Her estimated GFR was 58.42 ml/min/1.73m2 satisfying stage-3 kidney disease (KDOQI Classification). Her renal biopsy confirmed class IV lupus nephritis.
Her visual symptoms were attributed to CB and she was diagnosed as SLE with lupus nephritis according to the 1997 revised criteria for classification of SLE. She was initially treated with 3 daily pulses of IV methylprednisone (total of 3 grams) followed by high dose oral prednisone and concomitant mycophenolate mofetil. After 3 days her visual symptoms resolved completely with improvement of the renal function. She has had several lupus flares since, primarily due to poor drug compliance however her initial manifestation of CB has not recurred 8 years on.
CB as an initial presentation of SLE may be potentially challenging especially in the absence of antiphospholipid antibody and normal neuro-imaging. Interestingly our patient also had underlying lupus nephritis unveiled by further investigations and timely management prevented debilitating complications of permanent blindness and renal failure.