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. 2016 Apr 1;6:23910. doi: 10.1038/srep23910

Figure 2. Segregation analysis of identified variants in the families with an initial clinical diagnosis of diverse retinal phenotypes.

Figure 2

(a) Pedigree of the LCA family RP157. (b) Pedigree of the dominant LCA family RP522 harboring the heterozygous deletion of exons 3 and 4 in the CRX gene. (c) Pedigree of the STGD family RP298. (df) Pedigrees of the Usher Syndrome families. (g,h) Pedigrees of the Bardet-Biedl Syndrome families. (i) Pedigree of the related families RP264 and RP449. The index patient of the family RP449 (individual IV:2) received a clinical diagnosis of Bardet-Biedl Syndrome (checkered symbol) while the RP264 patients (II:4, III:4, III:5 and III:7) received a clinical diagnosis of adRP (solid symbols). (j) Pedigree of the retinoschisis family RP 512. Index patients are indicated with a black arrow. NA means non available DNA sample.