Figure 1.

Pedigrees of subjects with IFT172 mutations and their phenotypes. (A) Pedigree information and segregation of IFT172 variants in the three families. (B and C) Fundus photographs of subject II.2 from family 1, indicating attenuation of blood vessels and RPE atrophy. (D) Horizontal optical coherence tomography (OCT) scan image through the center of the macula of subject II.2 (Family 1), showing thinning of the outer retina and macular cystic edema. (E) Infrared image of the fundus depicting the area where the OCT image was taken in E. (F and G) Fundus photographs of the right eye of subject II.1 from family 2, showing bone-spicule pigmentation in the periphery of the retina (F), attenuated blood vessels and optic disc pallor (G). (H) Horizontal OCT scan image through the center of the macula of the right eye of subject II.1 (family 2), showing thinning of the outer retina. (I and J) Fundus autofluorescence image of subject II.1 from family 2 (I) and subject II.2 from family 3 (J), depicting a perifoveal ring of increased autofluorescence and loss of autofluorescence outside the vascular arcades. (K) Horizontal OCT scan photograph of subject II.2 from family 3, showing an absent photoreceptor layer outside the macular region and cysts in the inner nuclear layer.