Pedigree and clinical features of the French Canadian LCA-affected family. A, Pedigree of the family. Four siblings are affected with LCA (blackened symbols), and the parents are first cousins. Haplotypes are shown for the chromosome 12 interval containing CEP290. B–E, Color fundus photographs of the right eye of affected sib IV-8 at age 45 years. B, Posterior pole, showing myopic changes, choroidal show, mild optic disc pallor, very significant arteriolar and venular narrowing, a poorly developed fovea, and peri-papillary atrophy, which extends along the superior arcade. C, Superior retina, showing a small isolated area of pigmentation, one bone spicule, and diffuse choroidal show. D, Inferior retina, showing small clumps of round pigmentation. E, Inferotemporal retina, showing more extensive small, round intraretinal pigmentation (nummular pigmentation). Images are slightly blurred because of a mild nuclear cataract. F, CT scan at the level of the midbrain of proband IV-7 at age 40 years. The axial view of the brain shows the normal structures of the midbrain and the cerebellum, without the molar tooth sign. G, CT scan of proband IV-7 at age 40 years at the level of the basal ganglia and the ventricles, depicting normal brain architecture, with no cerebellar atrophy. H and I, Kidney ultrasounds of affected sibling IV-6 at age 51 years. At the level of the parenchyma, both kidneys show isolated tiny foci of marked increased echogenicity, but without definite posterior shadowing. These are located mostly on the left side at the level of the cortex, but a few are also identified near the medulla on both sides and may indicate the presence of nephrocalcinosis. On both images, there are neither definite cysts nor dilatation of the collecting system or ureteral dilatation. There is no evidence of nephronophthisis.