Multimodal imaging features and genetic findings in Bietti crystalline dystrophy.

ABSTRACT:

Background

Bietti crystalline dystrophy (BCD) is a distinct entity of retinitis pigmentosa with a wide range of genotypic and phenotypic variabilities. The goal of the present study was to investigate the morphological, functional and genetic features of BCD.

Methods

A full series of multimodal imaging was performed in four Chinese patients with BCD, including fundus photography, fundus autofluorescence, fundus fluorescein angiography (FFA), indocyanine green (ICG) angiography, optical coherence tomography (OCT) and microperimetry. Electrophysiological tests including full-field electroretinography (ERG) and multifocal ERG were employed. CYP4V2 gene sequencing was performed.

Results

Intraretinal crystalline deposits were observed in fundus photographs in all patients.

SUBMITTER: Wang W 

PROVIDER: S-EPMC7429681 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature