The Fundus Appearance of Methylmalonic Acidemia Combined with Homocystinuria

  • Ning Fan
  • Xuyang Liu
  • Jiantao Wang
Part of the Advances in Visual Science and Eye Diseases book series (AVSED, volume 2)


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 [1]. 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.


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Copyright information

© Springer Nature Singapore Pte Ltd. & People's Medical Publishing House, PR of China 2019

Authors and Affiliations

  • Ning Fan
    • 1
  • Xuyang Liu
    • 2
    • 1
  • Jiantao Wang
    • 1
  1. 1.Shenzhen Eye Hospital, Shenzhen UniversityShenzhenChina
  2. 2.Xiamen Eye Center of Xiamen UniversityXiamenChina

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