CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation Omer Karti, Saygin Abali, Ziya Ayhan, Eylem Gokmeydan,

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CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation Omer Karti, Saygin Abali, Ziya Ayhan, Eylem Gokmeydan, Serhad Nalcaci, Aylin Yaman, Ali Osman Saatci American Journal of Ophthalmology Case Reports Volume 7, Pages 129-133 (September 2017) DOI: 10.1016/j.ajoc.2017.06.007 Copyright © 2017 The Authors Terms and Conditions

Fig. 1 a, b Hypotrichosis associated with sparse and short hair. c, d Color fundus picture of the OD c and OS d indicating the central ring-shaped retinal pigment epithelium (RPE) atrophy and clearly demarcated healthy retina and affected posterior pole, and e, f showing the symmetrical wedge-shaped hypoautofluorescent area surrounded by a hyperautofluorescent rim. g, h Optical coherence tomography appearance. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.) American Journal of Ophthalmology Case Reports 2017 7, 129-133DOI: (10.1016/j.ajoc.2017.06.007) Copyright © 2017 The Authors Terms and Conditions

Fig. 2 Electrophysiological tests. American Journal of Ophthalmology Case Reports 2017 7, 129-133DOI: (10.1016/j.ajoc.2017.06.007) Copyright © 2017 The Authors Terms and Conditions