Abstract
We analyzed the OCT features of 24 eyes of 12 patients with Bietti crystalline dystrophy (BCD) with the Heidelberg HRA2-OCT. Seventeen of 24 eyes were in intermediate stage of the disease and seven in advanced stage of the disease at the time of latest OCT examination performed in 2014. Outer retinal tubulations and retinal hyperreflective dots were present in 20 of 24 eyes. The remaining four eyes had advanced disease with very thin retina. Appearance of bright plaque on top of RPE-Bruch membrane was present in all eyes. Choroidal hyperreflective spots were noted in 19 of 24 eyes. The remaining five eyes had advanced disease stage with very thin choroid. Mean central macular thickness was 163.08 μm ± 62.52 for all eyes (170.35 μm ± 56.46 in eyes with intermediate disease and 145.42 μm ± 77.2 in eyes with advanced disease). Mean subfoveal choroidal thickness was 95.37 μm ± 55.93 for the study eyes (116.47 ± 46.92 μm in eyes with intermediate disease and 44.14 μm ± 42.43 in eyes with advanced disease). Choroidal hyperreflective spots were noted in 21 of 24 eyes (87.5%). SD-OCT shows the disease progression in retinal and choroidal layers delicately in eyes with BCD and expands our knowledge about the ongoing disease process.
Highlights
In 1937, Bietti [1] described three cases characterized by glistening, yellow-white intraretinal crystals in the posterior pole, atrophy of the retinal pigment epithelium, choroidal sclerosis, crystals in the paralimbal cornea, and onset in the third decade of life.it is well established that Bietti crystalline dystrophy (BCD) is caused by mutations of the CYP4V2 gene [2]
It is well established that Bietti crystalline dystrophy (BCD) is caused by mutations of the CYP4V2 gene [2]
We hereby describe the SD-OCT features of 24 eyes of 12 patients with BCD and discuss the relevant clinical correlations
Summary
In 1937, Bietti [1] described three cases characterized by glistening, yellow-white intraretinal crystals in the posterior pole, atrophy of the retinal pigment epithelium, choroidal sclerosis, crystals in the paralimbal cornea, and onset in the third decade of life. The intraretinal crystals that are hallmark of the disease disappear within time and are replaced by areas of chorioretinal atrophy associated with progressive visual deterioration [3,4,5,6]. Though the classical characteristics of BCD are well described, imaging modalities such as SD-OCT increase our understanding of the disease process and add new insight into anatomical location and clinical implications of chorioretinal crystals. We hereby describe the SD-OCT features of 24 eyes of 12 patients with BCD and discuss the relevant clinical correlations
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