Figure 1
From: De novo mutations of TUBA3D are associated with keratoconus
Pedigree and clinical characteristics of the twins’ family. (A) Pedigree of the twins’ family with TUBA3D mutation. The proband is indicated by an arrow. Sanger sequencing confirms the mutations identified by WES. (B) Videokeratograph of the proband. The results showed high central corneal curvature (i.e., Kmax and Kmin of the front surface >60D), significant protrusion of the front and posterior surfaces, and thinning of the corneal thickness of both eyes. OD, right eye. OS, left eye.
