To access the data, click or select the words “Appendix 3.” (A) Chromosomal Microarray Analysis of chromosome 14q22.3 in patient 2–1, showing a heterozygous 656Kb duplication, which includes exons 1–3 of the OTX2 gene. (B) Integrative Genomics Viewer (IGV) visualization of part of RPGR exon 15 (ORF15) in patient 4–1 (reverse strand), showing a homozygous C>A transversion, leading to the c.2272G>T; p.Glu758* mutation. (C) Nucleotide sequence traces of TJP2 exon 16 in a non-carrier individual (wt) and in patient 5–1, who is homozygote for the c.2353C>T; p.Glu785* mutant allele (hom). The exon-intron boundary is marked. (D) IGV visualization and nucleotide sequence trace of part of PRPF31 exon 11 in patient 9–1, showing a heterozygote G>T transversion, leading to the c.1108G>T; p.Glu370* mutation. (E) IGV visualization (reverse strand) and nucleotide sequence traces of CACNA1F intron 36 in patient 12–1, who is hemizygote for the c.4294–9G>A (IVS37–9G>A) mutant allele. The intron-exon boundary is marked. The original and the newly-formed splice acceptor sites are underlined.