Figure 2  .

Specular microscopy reveals that patients with the mutated allele of DRPLA gene show severely decreased cell density in the corneal endothelium. Endothelial photographs of (A) patient IV-4 in Figure 1; (B) patient IV-2 in Figure 1; (C) family member III-7 in Figure 1 (2724 cells/mm²); and (D) a patient with Machado-Joseph disease who has a trinucleotide expansion allele with a normal repeat allele of the Machado-Joseph disease gene (2814 cells/mm²). Actual cell densities are reported in the text.