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. 2017 Feb 18;10(2):325-328.
doi: 10.18240/ijo.2017.02.25. eCollection 2017.

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

Feng-Juan Gao  1 , Sheng-Hai Zhang  2 , Jun-Yi Chen  1 , Ge-Zhi Xu  2 , Ji-Hong Wu  2
Affiliations

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

Feng-Juan Gao et al. Int J Ophthalmol. .
No abstract available

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Figures

Figure 1
Figure 1. Fundus photographs and SD-OCT scans of the right and left eyes of the proband
Fundus photography (A: right eye; D: left eye) in the proband exhibited attenuated vessels and bone spicule-shaped pigment deposits in the peripheral retina (marked by white arrow) in both eyes. SD-OCT scans along the horizontal (B: right eye; E: left eye) and vertical (C: right eye; F: left eye) meridian of the central retina highlighted the remaining photoreceptors and the transitional zone (marked by white arrow heads).
Figure 2
Figure 2. ERG results of the right and left eyes of the proband. Both dark-adapted and light-adapted responses were non-detectable.
Figure 3
Figure 3. Mutations identified in the EYS and LRP5 genes
A: Protein alignment for the mutations identified in EYS (left) and LRP5 (right) gene; B: Sequencing results of the novel mutation in the EYE gene (MU1) and LRP5 gene (MU2). Arrows indicate the position of the mutated nucleotide.
See this image and copyright information in PMC

References

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