Bietti's crystalline dystrophy in Asians: clinical, angiographic and electrophysiological characteristics

This article describes nine Chinese patients with Bietti's crystalline dystrophy, including two families, one consisting of three siblings and the other a pair of sisters. All patients had the classic refractile deposits located in all layers of the retina, with varying degrees of pigment epithelium atrophy. However, paralimbal crystals were not seen in the anterior corneal stroma. We describe clinical, angiographical and electrophysiological characteristics, and also review the literature on Bietti's crystalline dystrophy. All patients had full eye examination, including best corrected visual acuity, biomicroscopy, applanation tonometry and dilated funduscopy. Fluorescein angiography and indocyanine green angiography were performed, together with visual fields and electrophysiologic studies. All nine of our patients were phenotypically heterogeneous, with varying age and symptoms at presentation, as well as different degrees of progression. Age was not found to be a predictor of severity. The differences in disease severity, even within sibling groups, suggested that perhaps other factors were at play in phenotypic expression. We found that in early ICGA, all stages of BCD had delayed choroidal filling, which has not been previously described. We also observed a relative derangement of inner choroidal circulation as evidenced by late hypofluorescence on the ICGA. However, it is as yet unclear whether this circulatory disturbance is due to primary involvement of the posterior ciliary arteries, or secondary to choroidal and/or retinal pigment epithelial atrophy. While the FA and ICGA findings were similar, we found that the true extent of the atrophic areas was better delineated by ICGA. ICGA was also superior in outlining the degree and extent of choroidal vascular compromise.