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.
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