Dr.AMITHA SUNNY

Prof.Anthrayos C V Kakkanatt, Dr. RAKENDU PUTHIYEDATH, Dr. ANCHITHA MEENU R

Abstract

DIDMOAD syndrome is an inherited autosomal recessive condition that is typically associated with childhood onset Insulin dependent diabetes mellitus and progressive optic atrophy.Reporting a case of 15 year old female who was apparently normal till 5 years of age,who was then diagnosed with Diabetes mellitus,Diabetes Insipidus .Patient then developed deafness and defective vision at 7 years of age.On Examination,vision found to be 4/60 in right eye and 3/60 in left eye.Fundus examination revealed optic atrophy and arterial thinning.MRI showed optic nerve thinning.Genetic test of parents confirmed carrier state of WFSI mutation in couple reported to cause DIDMOAD syndrome.patient treated with conservative management.