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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants

Fig. 2

Representative images of the ocular findings in the BBS patients analyzed. Fundus photography showing a narrowing of retinal blood vessels, diffuse retinal pigment epithelial dystrophy with pigment clusters in mid-periphery; b narrowing of retinal blood vessels, widespread tapetoretinal degeneration and absence of pigment clusters. OCT scan showing c vitreomacular traction syndrome with retinal pigment epithelium dystrophy; (d) a macular lamellar hole with retinal pigment epithelium dystrophy

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BMC Medical Genetics

ISSN: 1471-2350

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