Abstract
BackgroundTo analyze multiple imaging modalities in patients with Bietti crystalline dystrophy (BCD) and to investigate which factors from these modalities are associated with best corrected visual acuity (BCVA).MethodsIn this retrospective study, 40 eyes from 22 patients with BCD were included and were separated into group 1 (BCVA ≤20/200) and group 2 (BCVA > 20/200). Data including BCVA and characteristic findings from near-infrared reflectance (NIR) imaging, fundus autofluorescence (FAF), and spectral domain-optic coherence tomography (SD-OCT) were analyzed and compared. The outcome measures of multimodal imaging were evaluated for correlation with BCVA.ResultsNIR is a good diagnostic tool for detecting either crystalline or sclerotic vessels in BCD. Patients in group 1 tended to have a thinner choroid (P = 0.047) with ellipsoid zone (EZ) disruption (P = 0.011). Calculation of the area under the curve indicated that EZ disruption detected on SD-OCT could be a good predictor of legal blindness in BCD.ConclusionFor the diagnosis of BCD, NIR could be a good diagnostic tool. Of the studied imaging modalities, we found that EZ disruption at the fovea were strongly associated with legal blindness, which could be easily assessed by SD-OCT.
Highlights
To analyze multiple imaging modalities in patients with Bietti crystalline dystrophy (BCD) and to investigate which factors from these modalities are associated with best corrected visual acuity (BCVA)
Patients with choroidal neovascularization (2 eyes), glaucoma (1 eye), and macula scar (1 eye) were excluded. Among these 22 patients clinically diagnosed with BCD, four had previously undergone genetic testing from a prospective study (Genetic study in hereditary retinal and optic nerve diseases, IRB 201601569B0C601), all of whom were confirmed to have the homozygous mutation c.802–8_ 810del17insGC in CYP4V2 gene (Fig. 1), which is the most common pathogenic variant of BCD in Eastern countries [12, 13]
We found that ellipsoid zone (EZ) disruption at the fovea and decreased foveal choroidal thickness significantly correlated with legal blindness, while central retinal thickness, sclerotic vessels and fundus autofluorescence (FAF) staging did not
Summary
To analyze multiple imaging modalities in patients with Bietti crystalline dystrophy (BCD) and to investigate which factors from these modalities are associated with best corrected visual acuity (BCVA). Bietti crystalline dystrophy (BCD) (OMIM#210370) is a severe inherited retinal dystrophy that is caused by autosomal recessive mutations in the cytochrome P450 family 4 subfamily V member 2 (CYP4V2) gene [1]. The CYP4V2 enzyme is involved in fatty acid oxidation, and the protein is highly expressed in retinal pigment epithelium (RPE) cells. The disease was first described by Bietti in 1937 based on three patients who exhibited numerous crystal deposits in the retina and perilimbal cornea. Crystal deposits gradually decrease in number [4], and retinal and choroid atrophy develop together with progressive visual loss [5].
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