Abstract

A 8 year old female child came with c/o defective vision in both eyes for past 6 months who has a brother with h/o Leigh’s disease.Birth and developmental history was uneventful.Her UCVA in BE)6/18 & BCVA in BE)6/12NIP.Anterior segment,colour vision was normal.Child was having centrocecal scotoma in RE and no scotoma in LE. Fundus BE)Disc- hyperemic,360 degree margin blurring+,vessels normal ,macula FR+.OCT showed BE)RNFL Thickening & BE)Optic nerve head elevation ,MRI brain was normal ,VEP- p100 latency prolonged.Then as advised by neurologist, child was started on IV Methylprednisolone 30mg/kg for 5 days followed by T.prednisolone 5mg for 50 days in view of BE)Disc edema.Anti MOG,IgG and NMO antibody was all negative. In FFA no leakage was found.Then patient was advised to do genetic analysis in which Homozygous variant of uncertain significance-autosomal recessive leber hereditary optic neuropathy DNAJc30 variant was found and then child was started on mitochondrial cocktail drugs.