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. 2017 Sep 22;7:12147. doi: 10.1038/s41598-017-11898-3

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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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Pedigree, genotype and phenotype of family 3. (a) L-ORD family 3 is a multi-generation pedigree showing autosomal dominant inheritance. Squares represent males, circles represent females. Shaded shapes indicate an affected individual. Clinical phenotyping of the proband III:I (b) Colour fundus photography shows areas of central retinal atrophy. (c) Fundus autofluorescence imaging shows areas of hypoautofluorescence matching the areas of atrophy. (d) Hyperreflective deposits within and deep to the neural retina, indicated by white asterisks, are observed in the macula in an OCT scan of the proband. NR, neural retina; CH, choroid. (e) Sequence analysis of C1QTNF5 exon 3 revealed a heterozygous c.489 C > A transversion, resulting in a serine to arginine mutation at position 163 in the L-ORD case (lower panel) compared to an unrelated, unaffected individual (upper panel).