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. 2017 Nov 23;7:16151. doi: 10.1038/s41598-017-16275-8

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© The Author(s) 2017

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits 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. 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/4.0/.

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Human Phenotyping. (A) Schematic representation next to an ultrasound scan of a normal eye with normal axial length and a hyperopic eye with reduced axial length (B). Illustrations provided by Lucy Evans (acknowledgements section). (C) Clinical phenotype of a normal eye compared to that of a patient with MFRP-related hyperopia. Infra-red fundus photograph revealed no intra-retinal pigment migration. Optical coherence tomography (OCT) shows cystic degeneration and edema, but photoreceptor nuclei loss in the one of the twins with severe frameshift mutations. (D) Location of known MFRP point mutations span all domains in an MFRP structural model.