Bietti's crystalline dystrophy

Abstract

Bietti's crystalline dystrophy (BCD) is a relatively rare tapetoretinal degeneration with marginal corneal dystrophy characterized by subepithelial corneal crystals at the limbus and intraretinal crystals in the posterior pole with atrophy of the retinal pigment epithelium and choroidal sclerosis caused by a mutation in the CYP4V2 gene. In this article, we present a case of a middle-aged female with a history of gradual, progressive, painless diminution of vision in both eyes showing multiple diffuse yellowish crystalline structures in the fundus with atrophy of underlying structures. Spectral domain-ocular coherence tomography of macula revealed bilateral multiple hyperreflective dots with outer retinal tubulations. Electroretinogram showed subnormal scotopic and photopic responses. Although very few cases of BCD have been reported, a wide knowledge about the disease is necessary to diagnose early and hence to uplift the quality of life to the patient by providing low visual aids and visual rehabilitation.