FP315

“More than blue eyes” To report a case of Waardenburg Syndrome

Method: 31 year old female,nulligravida with abnormal uterine bleeding admitted for myomectomy with history of deafness and inability to speak since childhood.On anterior segment examination right eye showed telecanthus,heterochromia iridis and on fundus examination choroidemia was seen and on OCT macula showed reduced choroidal thickness,On general physical examination premature graying of hair,hyper extension of middle interphalangeal joint and flexion deformity of distal interphalangeal joint,hypoplastic nasal ala,sensory neural hearing loss was present 
Result: With general physical examination and ocular examination came to a conclusion of Waardenburg Syndrome
Conclusion:Shows importance of ocular,general physical examination and systemic evaluation for syndromic  evaluation.Helps in genetic counselling and prenatal diagnosis if diagnosed early.