Different patterns of fundus autofluorescence related to ABCA4 gene mutations in Stargardt disease

Abstract

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.