Figure 2 | Scientific Reports

Figure 2

From: Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration

Figure 2

Pedigree, genotype and phenotype of family 2. (a) L-ORD family 2, in which affected family members are heterozygous for the normal and mutant p.P188T allele. Squares represent males, circles represent females. Shaded shapes indicate an affected individual. (b) En face near infrared reflectance image of right eye of proband showing circumpapillary and macular atrophic lesions. (c) OCT scan across the macula (defined in panel b by horizontal arrow) illustrating some preserved outer nuclear layer and sub-RPE deposits (inset, magnified part of scan labeling RPE and Bruch’s membrane, BrM). (d) Rod sensitivity loss (500 nm, dark-adapted) and cone sensitivity loss (600 nm, light adapted) visual field maps of the right eye of the proband. (e) Sequence analysis of C1QTNF5 exon 3 revealed a c.562 C > A transversion, resulting in a proline to threonine mutation in the L-ORD case (lower panel) compared to the unaffected relative (upper panel).

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