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Updated: Apr 24, 2026
Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
Fundus Autofluorescence as a Sensitive Biomarker of Disease Progression in Bietti Crystalline Dystrophy
Huanyu Zhao1, Masatoshi Fukushima1, Takahiro Hisai1
1Department of Ophthalmology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Purpose:
To characterize the natural history of Bietti crystalline dystrophy (BCD) and to identify reliable outcome measures for detecting disease progression.
Design:
A multicenter, prospective observational study.
Participants:
Patients with genetically confirmed BCD carrying biallelic pathogenic CYP4V2 variants, recruited from 6 academic centers in Japan, with a best-corrected visual acuity (BCVA) of 1.0 logarithm of the minimum angle of resolution (logMAR) or better in ≥1 eye at baseline.
Methods:
Multimodal imaging and functional assessments included BCVA, static perimetry (Humphrey 10-2), fundus autofluorescence, and OCT.
Main Outcome Measures:
Longitudinal changes in BCVA; hypo-autofluorescent (hypo-AF) area; and static perimetry parameters, such as mean deviation (MD), absolute scotoma points (ASPs), transitional zone retinal sensitivity (TZRS), and central subfield thickness (CST).
Results:
Thirteen patients with genetically confirmed BCD were followed prospectively over a median of 2.5 years (range: 2.5-3 years). Longitudinal analysis showed progression in hypo-AF area (12.0 mm2/year, 95% confidence interval [CI]: 7.1 to 16.9, P = 0.003), CST (-4.3 μm/year, 95% CI: -6.6 to -2.1, P < 0.001), MD (-1.0 dB/year, 95% CI: -1.7 to -0.3, P = 0.02), ASP (2.4 points/year, 95% CI: 1.8-3.0, P < 0.001), TZRS (-2.1 dB/year, 95% CI: -2.8 to -1.4, P < 0.001), and BCVA (0.04 logMAR/year, 95% CI: 0.01-0.07, P = 0.01). The hypo-AF area showed the biggest annual change rate (21.6%) and highest signal-to-noise ratio (1.10) among all parameters. Linear mixed-effects models revealed that hypo-AF area progression was significantly associated with faster loss of MD (P = 0.01) and ASP (P = 0.004), but not with BCVA, TZRS, and CST changes.
Conclusions:
This prospective natural history study suggests that hypo-AF area may serve as a useful structural measure for detecting disease progression in BCD clinical trials, warranting further validation in larger prospective studies.
Financial Disclosures:
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
