The Fundus Appearance of Methylmalonic Acidemia Combined with Homocystinuria
Combined methylmalonic acidemia and homocystinuria is a rare congenital disease characterized by abnormal organic acid metabolism. The cblC type is the most common clinical type of this disease, and it’s a multisystem disease caused by restricted intestinal absorption of vitamin B12 resulting from transcobalamin II deficiency . Its main clinical manifestations are impairments in the nervous system, the kidneys, and the blood system. Changes in the macula as a concomitant condition have not received due attention. A typical pedigree will be demonstrated in this section, and we can see the completely different prognoses resulting from different treatment timings.