SPARKLE IN THE EYE- A rare case of Bietti's Crystalline Dystrophy

• Nivetha Gandhi,  
• Priethikka Mohanarangam Selvakumaar,*  
• Snegapriya Thangaraj,  
• Adhityaram Ganesh

Abstract

Background: Bietti’s Crystalline Dystrophy is an uncommon autosomal recessive tapetoretinal dystrophy resulting from a mutation in the CYP4V2 gene. It is characterized by the presence of subepithelial corneal deposits at the limbus and small crystalline deposits in the posterior pole of the retina, accompanied by atrophy of the retinal pigment epithelium and choriocapillaris. Case report: In this report, we present the case of a 55-year-old male exhibiting reduced visual acuity, nyctalopia, impaired color vision, and yellow-white crystal deposition in the posterior pole of both eyes. Additionally, areas of retinal pigment epithelium atrophy and pigment clumping were observed. Spectral-domain optical coherence tomography (SD-OCT) of the macula revealed hyperreflective dots in the outer retinal layers, retinal pigment epithelium, and choroid, along with outer retinal tubulations. Electroretinography (ERG) results were subnormal, and visual field assessment indicated paracentral scotomas in both eyes. The patient has been prescribed spectacles and is undergoing regular follow-up. Conclusion: This case is highlighted due to its rarity and underscores the significance of employing SD-OCT and electrophysiological studies for early disease diagnosis. Additionally, it emphasizes the role of genetic counseling in preventing the inheritance of this condition.

Keywords

Biettis dystrophy, Retinal dystrophy, crystalline retinopathy, tapetoretinal dystrophy, CYP4V2 mutation