Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy

Akio Oishi; Maho Oishi; Manabu Miyata; Takako Hirashima; Tomoko Hasegawa; Shogo Numa; Akitaka Tsujikawa

doi:10.1016/j.oret.2018.02.012

Multimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy

Ophthalmol Retina. 2018 Oct;2(10):1071-1077. doi: 10.1016/j.oret.2018.02.012. Epub 2018 Apr 4.

Authors

Akio Oishi¹, Maho Oishi², Manabu Miyata², Takako Hirashima², Tomoko Hasegawa², Shogo Numa², Akitaka Tsujikawa²

Affiliations

¹ Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan. Electronic address: aquio@kuhp.kyoto-u.ac.jp.
² Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

PMID: 31047497
DOI: 10.1016/j.oret.2018.02.012

Abstract

Purpose: To evaluate the diagnostic usefulness of multimodal imaging in patients with Bietti crystalline dystrophy (BCD).

Design: Retrospective cross-sectional study.

Participants: Patients with chorioretinal dystrophy accompanied by crystalline-like deposits. The right eyes of the patients were analyzed.

Methods: Fundus photograph, near-infrared reflectance (NIR), fundus autofluorescence (FAF), and OCT images were evaluated. Presence of hyperreflectivity on NIR, well-demarcated areas of decreased FAF, hyperreflective material at or on the retinal pigment epithelium-Bruch's membrane complex, and outer retinal tubulation were graded for each patient. All exons and franking introns of CYP4V2 were screened using Sanger sequencing.

Main outcome measures: Sensitivity and specificity of the findings to discriminate patients with and without CYP4V2 mutation.

Results: In total, 33 patients were included in the study. Sanger sequencing revealed homozygous or compound heterozygous CYP4V2 mutations in 20 patients and heterozygous mutations in 2 patients. Among the investigated factors, hyperreflective appearance on NIR imaging yielded 100% sensitivity and 100% specificity in this cohort. The presence of outer retinal tubulation also was sensitive (95%), but specificity was moderate (45%). The revised diagnoses of patients without CYP4V2 mutations included retinitis pigmentosa, late-onset macular dystrophy, and central areolar choroidal dystrophy.

Conclusions: Multimodal imaging, especially NIR imaging, is useful to differentiate BCD patients with CYP4V2 mutations from patients with other chorioretinal dystrophies accompanied by crystalline-like retinal deposits.