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. 2018 Apr 27;50(4):53. doi: 10.1038/s12276-018-0079-0

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License, which permits any non-commercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. If you remix, transform, or build upon this article or a part thereof, you must distribute your contributions under the same license as the original. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/.

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Fig. 1 — a–d Clinical manifestations of patient. a, b Slit-lamp photographs of the patient with congenital cataract and microcornea. OD right eye, OS: left eye. c Iris coloboma. d Pictures of lens from the proband show opacities in the right eye. e Three-generation pedigree. Affected individual is represented as a filled square. Normal individuals are shown as empty symbols. f Sequence chromatograms of IPO13 in the patient and a sibling. g Homozygosity mapping analysis (using HomozygosityMapper) shows a 44.4 Mb locus of homozygosity on chromosome 1, which contains the IPO13 gene