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


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.


CONCLUSIONS
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.
Department of Oto-Neuro-Ophthalmological Surgical Sciences, Eye Clinic, University of Florence, Florence, Italy.
Andrea
A
Sodi
Alessandro
A
Bini
Ilaria
I
Passerini
Simona
S
Forconi
Ugo
U
Menchini
Francesca
F
Torricelli
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D002851:Chromatography, High Pressure Liquid; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004596:Electroretinography; D005451:Fluorescein Angiography / Q000379:methods*; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010641:Phenotype; D012160:Retina / Q000473:pathology*; D012374:Rod Cell Outer Segment / Q000473:pathology; D055815:Young Adult
C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters; D004247:DNA