Go With Your Gut Feeling

71 year-old man noticed a "smudge" in his central vision when reading that was gradually progressing over a year. Medical history was significant for one episode of hemorrhagic colitis requiring colectomy 28 years ago diagnosed as Crohn's disease, atrial fibrillation, and congenital dyschromatopsia. He worked as psychiatrist, did not drink alcohol, and quit smoking many years ago. Vision was 20/80 in the right eye and 20/60 in the left. Formal visual fields were full with bilateral decrease in foveal sensitivity. Foveal granularity was noted and retinal referral was made, however, no evidence of maculopathy was seen by retinologist. One year later, vision changed to 20/50 and 20/300. There was now questionable bilateral optic nerve pallor. CBC, ESR, CRP, ACE, ANA, VDRL, Vitamin B12 and folate were all normal except for mild leukopenia and thrombocytopenia. MRI brain/orbits without contrast was performed and was normal. Testing for LHON was negative. Multifocal ERG showed decreased cone responses. Patient was re-evalauted by the retinal service, but no diagnosis was made. Vision continued to; deteriorate to 20/200 and CF a year later. Investigations for neuromyelitis optica (NMO antibody testing with ELISA technique and contrast-enhanced MRI brain/spine) were negative. OCT of the RNFL was normal with no thinning of the papillomacular bundle. Patient was lost to follow-up for 4 years before returning to clinic 7 years after initial presentation, now with 20/400 and CF visual acuities. Visual fields demonstrated larger central scotomas in each eye. RNFL OCT remained unchanged, however, OCT of the macular ganglion cell complex demonstrated severe bilateral thinning. The following tests were performed: CBC, ESR, CRP, ANA, VDRL, ACE, Vitamin B12, Folate, NMO antibodies (cell-based assay technique), anti-MOG antibodies, and MRI brain/orbits/spine with contrast. All testing was negative again except for mild leukopenia and thrombocytopenia. A diagnostic procedure was performed.