Objective To describe the pattern of fundus autofluorescence (FAF) in Bietti’s crystalline dystrophy (BCD).
Methods and analysis From the National Institutes of Health EyeGene database of 2769 patients with known pathogenic mutations, 5 patients with BCD-causing CYP4V2 mutations who had FAF images were selected. Demographic and genetic information and imaging files were obtained. From the FAF imaging files, unique autofluorescence (AF) patterns and correlation with retinal structures were assessed by three investigators for clinical significance.
Results Five patients (four males, one female; mean age 56 years, range 42–76 years) were included, all with different CYP4V2 mutations. All patients displayed varying degrees of hypo-AF in the posterior pole. In four out of five patients, there was a relative hyper-AF of choroidal vessels within the hypo-AF area; this feature was limited to sclerotic vessels only. A transitional zone of speckled AF was visible around the hypo-AF area. This zone corresponded to the area containing retinal crystals on colour fundus photography; however, retinal crystals did not demonstrate hyper or hypo-AF.
Conclusions This study presents a previously unreported characteristic finding in patients with BCD with CYP4V2 mutations. AF of choroidal vessels may aid in differentiating BCD from other retinal dystrophies.
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Contributors HA: inception, data analysis and manuscript writing. ES: data analysis and manuscript writing. TJD-S: data collection, data analysis and manuscript revision.
Funding The data used for the analyses described in this paper were obtained from the National Eye Institute – National Ophthalmic Genotyping and Phenotyping Network (eyeGENE - Protocol 06-EI-0236 which has been funded in part from the National Institutes of Health/National Eye Institute, under Contract No. HHS-N-260-2007-00001-C. Supported in part by an Unrestricted Grant to the Department of Ophthalmology from Research to Prevent Blindness, New York, NY.
Competing interests None declared.
Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.
Patient consent for publication Not required.
Ethics approval Institutional Review Board approval was obtained from the Office for the Protection of the Research Subjects of the University of Southern California (protocol number: HS-19-00040).
Provenance and peer review Not commissioned; internally peer reviewed.
Data availability statement All data relevant to the study are included in the article.
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