hrp0094p2-118 | Diabetes and insulin | ESPE2021
, Spilioti Diamantina-Xanthi
, How-Yaw Stephanie
, Yong James
, Mathapati Dannaya
Thiamine-Responsive Megaloblastic Anaemia (TRMA) is a rare autosomal recessive disorder emerging due to mutation in the thiamine transporter 1 gene. It presents with sensorineural hearing loss, non-immune diabetes mellitus and megaloblastic anaemia. Ocular manifestations of TRMA described so far include optic atrophy and cone-rod retinal dystrophy. This paper presents a case report of a British-Pakistani adolescent boy unexpectedly diagnosed with bilateral severe proliferative...