Fig. 5
CFAP20 variants segregate with autosomal recessive retinal dystrophy.
a Four families (F1 through F4) presenting with early-onset, progressive Retinitis Pigmentosa (RP) from two Ophthalmology Centres (UK & Canada). In each pedigree, biallelic variants in CFAP20 (M1 thru M6) segregate with RP. Family 1 also exhibits polycystic kidney disease that segregates separately from RP and CFAP20. Arrow indicates proband in each pedigree (Details of symptoms are in Table 1 and summarized in Supplementary Table 3; further details of CFAP20 gene variants are in Supplementary Table 2). b The residues altered in each of the four patient variants (white) are predicted to alter residues in the CFAP20 protein (red) that are on the surface of the protein and therefore may impact upon interactions with PACRG (blue). The variants likely alter key components of the microtubule inner junction (see Fig. 1b for context). Protein structure derived from PDB file 6VE721. Colour fundus photographs of the left eye (c, j; F1:1 and F4:1 respectively) show a generalized retinopathy with peripheral pigment deposition, attenuated retinal vasculature and marked chorioretinal atrophy (c) and peripapillary atrophy (j). Autofluorescence imaging (d, f, h, k; F1:1, F2:1, F3:1, F4:1 respectively) demonstrates widespread decreased autofluorescence (d, f) indicating significant atrophy of retinal pigment epithelium (RPE) and focal lesions of RPE atrophy at the macula and midperiphery (k) and predominantly the inferior retina (h). Optical coherence tomographic imaging (e, g, i, l; F1:1, F2:1, F3:1, F4:1, respectively) shows significant loss of outer retinal layers (e, g) with some surviving outer retina at the fovea (i, l). |