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Sparkle in the eye: A rare case of Bietti's crystalline dystrophy

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Case Report

Author Details : Nivetha Gandhi, Priethikka Mohanarangam Selvakumaar*, Snegapriya Thangaraj, Adhityaram Ganesh

Volume : 10, Issue : 4, Year : 2024

Article Page : 805-812

https://doi.org/10.18231/j.ijceo.2024.140

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Abstract

Background: Bietti’s Crystalline Dystrophy is an uncommon autosomal recessive tapetoretinal dystrophy resulting from a mutation in the CYP4V2 gene. It is defined by the existence of sub-epithelial corneal deposits at the limbus and small sized, crystalline looking deposits in the retina, especially at the posterior pole. This is bolstered by retinal pigment epithelial atrophy and the 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 under regular follow-up.
Conclusion : This case is highlighted due to its rarity in the lack of genetic association and underscores the significance of employing SD-OCT and electrophysiological studies for early disease diagnosis. Additionally, it emphasizes the role of genetic counselling in preventing the inheritance of this condition.
 

Keywords: Biettis dystrophy, Retinal dystrophy, Crystalline retinopathy, Tapetoretinal dystrophy, CYP4V2 mutation.

How to cite : Gandhi N, Selvakumaar P M, Thangaraj S, Ganesh A, Sparkle in the eye: A rare case of Bietti's crystalline dystrophy. Indian J Clin Exp Ophthalmol 2024;10(4):805-812

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