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Fig. 4 | BMC Medical Genomics

Fig. 4

From: Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology

Fig. 4

TULP1 mutations and clinical manifestation of the LCA 15 patient in Family 11. Part a, optical coherence tomography (OCT) shows that the temporal retinal neuroepithelium of macula of both eyes were thinning, with the central fovea of macula forming a backward concave. Part b, ophthalmoscopic examination shows that the boundary of optic disc is blurred and the retina dark. Part c, the compound heterozygous mutation TULP1 c.1318C > T p.R440X (above) and c.1142 T > G p.V381G (below). Part d, Secondary structure change of the novel mutation TULP1 c.1142 T > G

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BMC Medical Genomics

ISSN: 1755-8794

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