Abstract
Objectives We present a case of severe painless progressive bilateral visual loss in a young male with severe vitamin A deficiency associated with skull hyperostosis and compressive optic neuropathy. This case highlights and adds to the literature of this rarely described triad with severe hypovitaminosis A.
Method Case Report
Results A 20-year-gentleman presented with six weeks of severe progressive painless visual loss resulting in a visual acuity limited to perception of hand movements. This is on a background of obesity and a restrictive diet. There were no antecedent infective symptoms, vaccination or past neurological or visual symptoms. The MRI showed hyperostosis of the skull especially affecting the skull vault with features suggestive of bilateral compressive optic neuropathy He underwent anterior clinoidectomy for optic nerve decompression along with a three day course of intravenous methylprednisolone Lactate, blood sugar, vasculitis screen and autoimmune markers were unremarkable. The CSF analysis was non-inflammatory. Investigations. revealed severe vitamin A and vitamin B12 deficiency. Visual acuity improved to 6/60 at time of discharge following surgery and vitamin replacement therapy.
Conclusion Hypovitaminosis A can be associated with skull hyperostosis and compressive optic neuropathy. Previous literature described a similar triad mainly in patients with autism spectrum disorder and restrictive eating patterns. They were also associated with other fat soluble vitamin deficiencies particularly vitamin B12. Ophthalmic findings of xerophthalmia and nyctalopia are often seen but may not be present. Prompt vitamin replacement therapy and decompressive surgery needs to considered in these cases to preserve and improve vision.
