Figure 1 Clinical and Radiological Images of the Affected Members of the Two Families Included in This Study
(A) A pedigree of the two families shows the number of affected siblings in each family and the outcome of segregation analysis (affected, shaded; carriers, half-shaded; and WT, unshaded). The proband in each family is indicated by a black arrow. Genotypes for the proband and their siblings are shown.
(B–E) Brain MRI of the four affected individuals (B, II:5 in family 1; C, D, and E, II:1, II:4, and II:5 in family 2) in this study shows evidence of a molar tooth sign, cerebellar vermis hypoplasia, and elongation of the superior cerebellar peduncles (arrowed).
(F) Facial photo of the proband (II:5) in family 1 shows dysmorphic features (depressed nasal bridge, upturned nares, ptosis, arched eyebrows, synophrys, telecanthus, and low-set ears).
(G and H) Ultrasound scan image of the kidneys of the affected member in family 1 (II:5) shows an echogenic left multicystic dysplastic kidney (G) and an unaffected right kidney (H).
(I–R) Retinal imaging, including multicolor scanning laser fundal images of the eyes, of the three affected siblings in family 2 (II:1, II:4, and II:5) shows granular alterations of the retinal pigment epithelium and subtle spicule formation, particularly around the major vascular arcades, and arteriolar attenuation (I, II:1; J, II:4; K, II:5). Autofluorescence images show stippled hypo-autofluorescence areas concentrated around the arcades (L, II:1) and hyper-autofluorescence around fovea (M, II:4; N, II:5). Horizontal optical coherence tomography scans demonstrate thinning of the outer nuclear layer and loss of ellipsoid and external limiting membrane lines with preservation of inner retinal lamination in all three siblings (O, II:1; P, II:4; Q, II:5). A horizontal optical coherence tomography scan of a healthy control individual is shown for comparison (R).