PMC4742652_01
Fundus photographs of both eyes (A) of our 45-year-old male patient with confirmed Bietti crystalline retinal dystrophy. Numerous retinal crystals are observed throughout the posterior pole and in the mid-periphery. Retinal pigment epithelium degeneration and choroidal atrophy are also found. A fundus fluorescence angiography image of the retinal arterial phase in the right eye (B) showing well-defined choriocapillaris filling defects, pigment epithelial window defects, and punctate blocked fluorescence. Optical coherence tomograph showing intraretinal and intrachoroidal crystalline deposits (arrowheads) with outer retinal rosette (arrows) (C). Grayscale image from Humphrey visual field test showing a central scotoma (D). Standard electroretinogram (ERG) showing slightly reduced amplitudes (E). Multifocal ERG showing reduced amplitude in the central macular area (F). OD = right eye; OS = left eye.
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RPE degeneration was observed with choroidal atrophy, which was more severe in the posterior pole than in the peripheral area (Fig. 1A). Fundus fluorescein angiography showed a well-demarcated window defect due to RPE degeneration and choroidal atrophy and punctate fluorescein blockage caused by RPE hypertrophy (Fig. 1B). Spectral-domain optical coherence tomography (Spectralis; Heidelberg Engineering, Heidelberg, Germany) showed generalized photoreceptor layer disruption and multiple small hyper-reflective crystals in the retina, RPE-choriocapillary complex, and choroidal layers (Fig. 1C). Analyzer; Carl Zeiss Meditec, Dublin, CA, USA) showed central scotoma (Fig. 1D). A standard electroretinogram showed slightly reduced amplitudes, while multifocal electroretinogram revealed a loss of peak response in the fovea (Fig. 1E and 1F).