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Fig. 1 | BMC Ophthalmology

Fig. 1

From: Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Fig. 1

Corneal phenotype observed in five probands with Schnyder corneal dystrophy. Ring of prominent superficial crystalline deposits in proband 1 aged 36 years (a), also documented by SD-OCT as a discontinuous hyper-reflective line beneath the epithelium and within the anterior corneal stroma (b). Discrete crystalline deposits in proband 2 aged 8 years (c) and more scattered opacities on SD-OCT (d). Central mid-stromal crystalline deposits in proband 3 aged 10 years (e). Diffuse stromal haze with prominent arcus in proband 4 aged 54 years (f, g) and proband 5 aged 37 years (h). Corneal crystals (arrows) were present in all probands, although in proband 2 they were a minor feature (b), corresponding to an early stage of the disease, and in probands 4 and 5 (g, h) they were present in only a very small area (arrows). All images show findings in the right eye

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