Utilization of Fundus Autofluorescence, Spectral Domain Optical Coherence Tomography, and Enhanced Depth Imaging in the Characterization of Bietti Crystalline Dystrophy in Different Stages

Abstract

Noninvasive fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging may help to characterize the chorioretinal pathology of BCD at different degrees, and therefore, we propose staging of BCD depending on those methods. Physicians should be cautious of the vision-threatening complications of the disease.

Genetics of Bietti Crystalline Dystrophy

“…Bietti crystalline dystrophy can be associated with other sight-threatening complications, including cystoid macular edema, choroidal neovascularization, and macular hole. [13][14][15][16][17][18][19][20][21] Fluorescein and Indocyanine Green Angiography Findings Fluorescein angiography changes correlate well with clinical findings and progression in BCD. 12,22,23 In the early stage of BCD, hyperfluorescence due to window defects appears in areas of RPE atrophy with intact choriocapillaris.…”

“…With the use of enhanced depth imaging SD-OCT, thinning of the choroidal layer is also found as the clinical course of BCD advances. 17 Cystoid macular edema has also been observed in a few reported cases of BCD. 17,26,36 Fundus Autofluorescence Findings Fundus autofluorescence (FAF) imaging with confocal scanning laser ophthalmoscope imaging is derived from lipofuscin within the RPE, allowing noninvasive visualization of the RPE layer in BCD patients.…”

“…17 Cystoid macular edema has also been observed in a few reported cases of BCD. 17,26,36 Fundus Autofluorescence Findings Fundus autofluorescence (FAF) imaging with confocal scanning laser ophthalmoscope imaging is derived from lipofuscin within the RPE, allowing noninvasive visualization of the RPE layer in BCD patients. 35 In the early stage of BCD, FAF reveals widespread hypoautofluorescence corresponding to areas of RPE atrophy and multiple hyperautofluorescent speckles in the fundus (Fig.…”

“…49,55 Interestingly, clinical symptoms of BCD remain only in the eyes. The link between altered 32 Yin et al, 36 Meng et al, 59 Manzouri et al, 64 Shan et al 60 15 3 c.332T>C p.I111T Missense Li et al, 55 Astuti et al, 63 Rossi et al, 61 García-García et al, 65 Haddad et al, 66 Rossi et al 67 10 Lin et al, 11 Li et al, 17 Gocho et al, 27 Halford et al, 32 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Astuti et al, 63 Nakamura et al, 68 Lee et al, 69 Chung et al, 70 Gekka et al, 71 Jin et al, 72 Liu et al, 73 Shan et al, 60 Tian et al, 62 Wada et al, 74 10 Li et al, 17 Li et al, 55 Xiao et al, 57 Meng et al, 59 36 Meng et al, 59 Mamatha et al 77 43 9 c.1091-2A>G Exon9del Splice site Li et al, 17 Yin et al, 36 Li et al, 55 Xiao et al, 57 Meng et al, 59 Shan et a...…”

“…35 Outer retinal tabulations seem to be relatively more commonly described in BCD when compared with other retinal dystrophies, such as RP and cone dystrophy. 28,29 Li et al 17 proposed the evolution of SD-OCT features as the severity of BCD progresses. In the early stage, there is loss of interdigitation zone and localized disruption of the ellipsoid zone.…”