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. 2020 May 7;106(6):893–904. doi: 10.1016/j.ajhg.2020.04.005

Figure 1.

Figure 1

Individuals Harboring Nonsynonymous KIF3B Variants Display Retinal Phenotypes

(A) Ophthalmological examination of individual 1 (family A) who harbors a de novo c.748G>C (p.Glu250Gln) KIF3B variant. Shown are (a) ophthalmological fundus imaging of the right and the left eyes; (b) fundus autofluorescence imaging of the right and the left eyes; (c) spectral domain optical tomography of the right fovea (scale: 1 mm); and (d) spectral domain optical tomography of the left fovea (scale: 1 mm). Refraction was performed under cyploplegia with chlorhydrate of cyclopentolate 0.5% (Alcon). Optical coherence tomography (OCT) analysis and the autofluorescence fundus imaging were conducted with an OCT spectal domain (Heidelberg Engineering, Spectralis HRA-OCT).

(B) Ophthalmological examination of individual VI-2 (family B) who harbors a c.1569T>C (p.Leu523Pro) KIF3B variant. White arrows indicate retinal pigments characteristic of retinitis pigmentosa. Shown are (a) ophthalmological fundus imaging of the right and the left eyes; (b) fundus autofluorescence imaging of the right and the left eyes; (c) spectral domain optical tomography of the right fovea (scale: 1 mm); and (d) spectral domain optical tomography of the left fovea (scale: 1 mm).