Abstract

A 14 year old girl presented with complaints of Be) gradual painless loss of vision for past 1 month. She had H/o irregular periods for past 8 months. On evaluation for secondary amenorrhoea she was found to have insulin dependent diabetes mellitus and hypothyroidism. On presentation Be) Vn CFCF Be) Anterior segment normal. Fundus Be) Temporal pallor of the disc with absent foveal reflex. OCT RNFL Re) shows borderline thinning in temporal quadrant Le) Normal. FVEP – Normal, PVEP – poor cooperation. MRI brain showed mild cerebral and cerebellar atrophy. ENT examination showed no evidence of sensorineural deafness at present. Studies show less severe mutations involving WFS1 gene can cause WFS 1 related disorders without some manifestations. A diagnosis of DIDMOAD syndrome/ Wolfram spectrum disorders was made. Patient is now sent for genetic analysis, reports awaited. She is now managed conservatively with tablets coenzyme Q10 and Benfotiamine and is on periodic follow-up.