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. 2019 Aug 7;13:361. doi: 10.3389/fncel.2019.00361

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Copyright © 2019 Guo, Wang, Ma, Cui, Yu, Liu, Xue, Zhu, Cao, Li, Tang and Chen.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Identification of a novel pathogenic mutation of the USH2A gene in RP. (A) Pedigrees and mutations segregating in family C310. Males and females are represented by squares and circles, respectively. The symbols for affected family member are filled. The symbols for proband with black arrow. The genotype of each evaluated individual is shown below the individuals’ symbol and identification number. Abbreviations: Wild type (+); c.8559-2A > G (M1); c.9127_9129delTCC (M2). (B) Fundus images of the proband and health control. Fundus photographs showed the abnormal pigmentation in the peripheral area in both eye of the proband (a,b). Loss of outer limiting membrane (OLM), ellipsoid zone (EZ) and interdigitation zone (IZ) was visualized by SD-OCT in the proband (c–f), when comparing to the normal eye (g,h).