A Case of Bietti Crystalline Dystrophy with Clinical, Electrophysiological and Imaging Findings

Abstract

In this study, ophthalmologic examination findings, fundus fluorescein angiography, optic coherence tomography (OCT), visual field testing, electrophysiological, and systemic laboratory findings of a 43-year-old female patient who presented with blurry vision and who had retinal and corneal deposits were examined. Our patients’ best-corrected visual acuity was 0.9 bilaterally. Her anterior segments and intraocular pressures were bilaterally normal. Fundus examination revealed bilateral glistening yellowish intraretinal crystalline deposits in the posterior pole and midperipheral retina. The electroretinographic examination revealed a decrease in scotopic and photopic a and b wave amplitudes. Corneal and intraretinal glistening crystalloid deposits were observed in the OCT. Our patient and her husband were relatives. Her sister’s, brother’s, and children’s OCT also revealed bilateral corneal and intraretinal crystalloid deposits. We diagnosed this case as Bietti’s crystalline dystrophy which is a rare disease with genetic inheritance that must be considered in the differential diagnosis in countries in which consanguineous marriage is often.

A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization

“…It is characterized by tiny sparkling yellowish crystals in the posterior pole, retinal pigment epithelium (RPE) atrophy, and choroidal sclerosis [1] . Crystals in the corneal limbus and circulating lymphocytes have also been reported in some cases [2][3] . Although BCD is a rare form of non-syndromic retinitis pigmentosa (RP), it is relatively common in China and Japan.…”