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Published on: May 26, 2023
Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease
Andrea Sodi1, Alessandro Bini, Ilaria Passerini
1Department of Oto-Neuro-Ophthalmological Surgical Sciences, Eye Clinic, University of Florence, Florence, Italy.
Background And Objective:
Stargardt disease is a type of juvenile-onset macular dystrophy. The clinical presentation is characterized by macular atrophy and the presence of lipofuscin storage. The aim of this study was to investigate a possible correlation between different ABCA4 gene mutations and the autofluorescence pattern.
Patients And Methods:
Twenty patients with Stargardt disease were examined for ABCA4 gene mutations and were administered fundus autofluorescence examinations.
Results:
Autofluorescence imaging demonstrated different patterns. ABCA4 gene analysis exhibited 16 missense mutations, 4 stop mutations, 4 splicing mutations, 3 deletions, and 1 insertion randomly distributed in the two alleles.
Conclusion:
The presence of two severe mutations in the two alleles was associated with a larger atrophy of the retinal pigment epithelium in the macular area.
