PMC5892326_01
General appearance of a 13-year-old Japanese girl with spondyloepiphyseal dysplasia congenita. She exhibited short trunk and limbs.
cop-0009-0138-g01.jpg
PMC5892326_01_cop-0009-0138-g01.jpg
F1
Her general appearance was notable in that she exhibited a relatively short trunk and limbs (Fig. 1). Her best-corrected visual acuity was 20/100 in the right eye and 20/60 in the left eye.
Corneal imaging findings. a Slit-lamp biomicroscopy shows a diffuse opacity in the central cornea of the right eye. b Fourier-domain optical coherence tomography shows an opacity localised in the central cornea and deep stroma of the right eye.
cop-0009-0138-g02.jpg
PMC5892326_01_cop-0009-0138-g02.jpg
F2
Slit-lamp examination revealed a diffuse corneal opacity in the central cornea of both eyes, localised in the depth of the posterior corneal stroma (Fig. 2a). Fourier-domain OCT (RTVue-100; Optovue, Inc., Fremont, CA, USA) revealed that the opacity was localised in the central cornea and deep stroma (Fig. 2b).
Corneal axial maps obtained with a rotating Scheimpflug-based corneal tomography (Pentacam HR; Oculus GmbH, Wetzlar, Germany) showed a vertical bowtie pattern with mild inferior-superior dioptric asymmetry for both eyes.
cop-0009-0138-g03.jpg
PMC5892326_01_cop-0009-0138-g03.jpg
F3
Corneal topographic measurements showed vertical bowtie pattern with mild inferior-superior dioptric asymmetry for both eyes (Fig. 3).
PMC5892326_02