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Ultra wide-field imaging deepens knowledge of Stargardt’s disease
Wide-field retinal imaging revealed the presence of peripheral pigmented retinal lesions resembling congenital hypertony of retinal pigment epithelium lesions in a significant percentage of patients with Stargardt’s disease, an inherited, juvenile form of macular dystrophy.
The study involved 62 patients with both clinical and genetic diagnosis of Stargardt’s disease. Ultra-wide field autofluorescence and wide-field fundus photography showed peripheral pigmented retinal lesions in 14 (23%) of these patients, 13 (93%) of which had presented with first symptoms of the disease at the age of 13 years or younger.
They had abnormal full-field electroretinogram with rod or combined rod and cone dysfunction, large central scotomas and visual acuity worse than 20/200 in the better eye.
Peripheral pigmented retinal lesions were flat, with irregular, sharp borders and contained retinal flecks in 50% of the cases. Size was variable, and some lesions presented with non-pigmented areas or a hypopigmented halo. They resembled congenital hypertony of retinal pigment epithelium lesions, but some characteristics, such as the irregular borders and the heterogeneous pigmentation pattern were atypical.
Genetic analysis found that the most frequent pathogenic variants in this group of patients were the missense mutations p.A1038V and p.A1773V and the splice site defect c.5461-10T>C. The authors noted that p.A1038V causes retention of protein in the photoreceptor inner segment and absence of ABCA4 activity and c.5461-10T>C, which is associated with rapidly progressing disease and causes exon skipping, protein truncation and absence of ABCA4 activity.
“Presence of these lesions might be associated with severe phenotypes of the disease,” the authors concluded. – by Michela Cimberle
Disclosure: The authors reported no relevant financial disclosures.