Two of the patients were brothers, suggesting a familial and inherited disorder. The onset of these changes was in the third decade of life. Corneal involvement was observed, consisting of crystals in the superficial layer at the limbus. With the advent of multimodal imaging with spectral domain optical coherence tomography, fundus autofluorescence, and adaptive optics scanning laser ophthalmoscopy, more precise delineation of BCD severity and progression is now possible, allowing for the potential future development of targets for gene therapy.īietti crystalline dystrophy (BCD) was first described by Bietti 1 in 1937 in 3 patients who had tapetoretinal degeneration characterized by glistening, yellow-white intraretinal crystals in the posterior pole, atrophy of the retinal pigment epithelium (RPE), and choroidal sclerosis.
Several genotypes have been associated with more severe phenotypes based on clinical and electrophysiological findings. Electroretinographic assessments have revealed progressive dysfunction of rod and cone photoreceptors in patients with BCD. The CYP4V2 protein is localized most abundantly within the endoplasmic reticulum in the RPE and is postulated to play a role in the physiological lipid recycling system between the RPE and photoreceptors to maintain visual function. The CYP4V2 gene belongs to the cytochrome P450 superfamily and encodes for fatty acid ω-hydroxylase of both saturated and unsaturated fatty acids. CYP4V2 has been identified as the causative gene for BCD. Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment epithelium (RPE), choriocapillaris, and photoreceptors.
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