Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes

: "Our results emphasize the variable presentation of MTHFR deficiency in
different genetic backgrounds and suggest that plasma homocysteine is not a
predictor of severity. In addition, our novel findings of decreased spleen
weights, thrombocytopenia, and impaired retinal function warrant investigation
in patients with severe MTHFR deficiency or other forms of
homocystinuria."

CiteULike: Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes