Brain and Eye Institute

12/11/2023

A female in her 30s presents with hearing loss AU and paresthesias in her early 20s as well as recent blurring in central vision OU found to have temporal optic nerve pallor OU and diffuse areflexia.
MRI brain orbits w/wo Within Normal Limits
Nerve Conduction Studies showed abnormal sensory neuropathy of Bilateral Lower extremities .

blood work B12, folate, TSH/T4, ACE, Cu, Zn, ANA, RF, Bartonella, Lyme, quantiferon, RPR, HIV ab Within Normal Limits
Visually Evoked Potential showed in the picture demonstarted delayed P100 signal OU indicating optic nerve damage.

Brown-Vialetto-Van Laere (BVVL) syndrome was suspected and genetic testing was positive for riboflavin transporter deficiency
confirming the diagnosis.
Only a hand full of cases have ever been reported!

Recommended Riboflavin 400 mg qd supplementation.

12/11/2023

Headache & Needless Vision loss

check it out on our website!

https://the-brain-and-eye-institute.odoo.com/r/et7

12/04/2023

12/04/2023

Check out my blog post

10/12/2023

Check out my blog post

08/02/2023

Leave no stone unturned

A healthy male in his 50s, reports several years of gradual onset painless deterioration in both central vision and visual fields OU. He was found to have elevated IOPs OU, with optic nerve cupping OU, and arcuate visual field defects OU. He was diagnosed with Glaucoma and treated with IOP lowering....