PMC8350053_01
Image obtained during slit lamp examination showing characteristic Kayser-Fleischer (K-F) ring (arrowhead) at the margin of the cornea and scler. (A) the image of the left eye; (B) the image of the right eye.
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F1
The diagnosis of WD was established based on the presence of Coombs negative hemolytic anemia, Kayser-Fleischer rings on slit lamp examination (Figure 1), low level of serum ceruloplasmin, and obviously elevated levels of 24-h urine copper (3,804 mug/24 h) (Table 1). The latter revealed a novel heterozygote splicing mutation c.51+2T>G within intron 1 of the ATP7B (13q14.3|NM_000053.3) (Figure 1A), which was evaluated as likely pathogenic according to the American College of Medical Genetics and Genomics (ACMG) criteria.