FP1132 : UNUSUAL CASE SERIES OF OPTIC ATROPHY – BROWN-VIALETTO VAN LAERE SYNDROME (BVVL)

Dr.HARIKA VELUMANI, H19448

We are reporting a case series of a degenerative disorder which runs in the family.A 12 year old girl presented with progressive painless dimunition of vision for the past 7 years.Vision in Both the Eyes(BE) was 6/60 PH 6/36. Lagophthalmos was present in BE.Slit lamp examination showed inferior corneal opacity. Dilated fundus showed primary Optic Atrophy in BE.Ocular movements were full and free.She was diagnosed with dysphagia,weak gag reflex,Sensory Neural Hearing Loss(SNHL) diagnosed by Brainstem auditory evoked potentials,Generalised loss of motor muscle tone,Kyphosis.Similar complaints such as SNHL,Optic Atrophy,Motor muscle weakness were noticed in her 8yr old younger brother.Genetic analysis revealed SLC52A2-Riboflavin transporter deficiency in both the siblings.They were diagnosed with BVVL syndrome.Symptomatic treatment was given along with the best corrected glasses.Paediatric neurologist consultation was sought.This is being reported because of the rarity of the disease.