RETINAL DYSTROPHIES AND SYNDROMES
Bietti Crystalline Dystrophy
Bietti crystalline dystrophy (BCD), also called crystalline retinopathy, is a chorioretinal degeneration characterized by the presence of yellow-white crystals in the retina. BCD is a genetic disease with autosomal recessive inheritance. The diagnosis can be confirmed by the identification of CYP4V2 disease-associated mutations.
Due to a progressive atrophy and degeneration of the retinal pigment epithelium/choroid, patients present reduced visual acuity, poor night vision, abnormal retinal electrophysiology, visual field loss (peripheral or central scotomas), and often impaired color vision, usually during their second and third decade of life.
Ophthalmoscopy discloses multiple glistening intraretinal dots scattered throughout. These crystalline deposits have been observed to...