A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family

<div>(a) Retina (right) reveals a retinopathy pigmented with attenuated retinal arterioles (white arrows). The midperiphery reveals bone spicule-like pigmentation (black arrows). (b) Reduction of the visual field. (c) An electroretinogram indicated dysfunction in the binocular retina.</div>

Disease Markers

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Figure 2

Figure 2: A Novel Heterozygous Mutation of the <i>COL4A3</i> Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 

Figure 2 | A Novel Heterozygous Mutation of the COL4A3 Gene Causes a Peculiar Phenotype without Hematuria and Renal Function Impairment in a Chinese Family 