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. 2015 Dec 2;24(7):1071–1079. doi: 10.1038/ejhg.2015.241

Figure 3.

Figure 3

Fundus pictures of LCA cases with novel variants. (a) The fundus of proband F2 with variants p.(G850V) and p.(V1340I) in CRB1, at the age of 28 years, showing central maculopathy, peripheral nummular pigmentations and attenuated vessels. F2 had a refraction of +6.0/+5.5 at the age of 6 years. (b) Fundus of patient F21-II:1 with variants c.495+1dup and p.(R44*) in RPE65, at the age of 17 years, showing attenuated vessels and no hyperpigmentation. At 22 years, the refraction was +7/+7. (c) Fundus of patient F46-II:1 with variants p.(G32C) and p.(R44*) in RPE65, at the age of 17 years, showing attenuated vessels and no hyperpigmentation. Refraction was −4.0/−4.0 at the age of 20 years. (d) Fundus picture of proband F55 with variants c.11+5G>A and p.(P363R) in RPE65, at the age of 6 years, showing attenuated vessels and slight muddy retinal pigmentation in the periphery. Refraction was −1/+2 at the age of 1 year. (e) Fundus picture of proband F81 with variants c.930+3A>G and c.3618-5del in RPGRIP1, at 9 years of age, showing attenuated vessels and no hyperpigmentation. Refraction was +5.5/+6.0 at the age of 1 year. (f) Fundus of patient F79-II:2 with a homozygous RPE65 p.(D110G) variant, at the age of 9 years, showing attenuated vessels and a pale optic nerve. Refraction was −2/−3.25 at the age of 1 year. (g) Fundus of proband F86 with a homozygous p.(D110G) variant in RPE65, at the age of 40 years. The fundus shows attenuated vessels, atrophic optic nerve and pigment aggregations. Refraction was −1.5/−2.0 at the age of 1 year.