Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy presenting with intraretinal crystalline deposits and varying degrees of progressive chorioretinal atrophy commencing at the posterior pole. In some cases, there can be concomitant corneal crystals noted first in the superior or inferior limbus. CYP4V2 gene, a member of the cytochrome P450 family is responsible for the disease and more than 100 mutations have been defined thus far. However, a genotype-phenotype correlation has not been established yet. Visual impairment commonly occurs between the second and third decades of life. By the fifth or sixth decade of life, vision loss can become so severe that the patient may potentially become legally blind. Multitudes of multimodal imaging modalities can be utilized to demonstrate the clinical features, course, and complications of the disease. This present review aims to reiterate the clinical features of BCD, update the clinical perspectives with the help of multimodal imaging techniques, and overview its genetic background with future therapeutic approaches.

Automated summary

Bietti crystalline dystrophy (BCD) is a rare, genetically determined chorioretinal dystrophy characterized by intraretinal crystalline deposits and progressive chorioretinal atrophy. The CYP4V2 gene is responsible for the disease and more than 100 mutations have been identified. Visual impairment typically occurs in early adulthood and can progress to legal blindness in later stages. Multimodal imaging techniques can be used to study the clinical features, progression, and complications of BCD. This review provides an overview of BCD, including its clinical features, imaging perspectives, and genetic background for future therapeutic approaches.