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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: A patient advocating for transparent science in rare disease research

Fig. 1

Retinal Phenotype of Bietti Crystalline Dystrophy (BCD). (A) Spectral domain optical coherence tomography (SD-OCT) image of the left eye of a BCD patient (the author). The OCT shows severe RPE and outer retina atrophy and loss of ellipsoid zone (EZ). Hyperreflective subretinal crystals can be seen. (B) Light micrograph of the posterior retina of a BCD patient. There is near total degeneration of all functional elements of the retina leaving only structural astrocytes. Only a small number of recognizable retinal pigment epithelial cells remain (arrow). (hematoxylin-eosin, original magnification × 200). (C) Electron micrograph of the retina of a BCD patient. Retinal degeneration is characterized by intracellular pigmented granules and vacuolated cytoplasm. The retina and choroid also show no evidence of lysosomal crystals. (D) Fundus photograph of the right eye of a BCD patient. There is widespread subretinal crystalline deposits seen throughout the fundus. RPE atrophy is observed at the macula, revealing the underlying choroidal vessels. Some RPE pigment clumps are seen in the peripheral fundus. (E) BCD is an autosomal recessive, retinal degenerative disease caused by mutations in the CYP4V2 gene. Figure 1B C, and related figure legend descriptions are reproduced from the following open access article [14]: Furusato E, Cameron JD, Chan CC. Evolution of Cellular Inclusions in Bietti’s Crystalline Dystrophy. Ophthalmol Eye Dis. 2010;2010(2):9–15. © 2010 the authors, publisher and licensee Libertas Academica Ltd. Figure 1D was provided with patient consent by Invincible Vision, a BCD patient organization

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