Study finds rare peripapillary involvement in Stargardt's disease

Retina. 2009;29(2):181-186.

Although rare, patients with Stargardt's disease may present with clinical signs of peripapillary atrophy.

In a retrospective case review of 150 patients from a Stargardt's database, researchers identified three patients with peripapillary atrophy. The condition was most associated with multiple ABCA4 mutations. It is generally believed that the peripapillary region is not affected by the inherited autosomal recessive disorder.

According to the study authors, the finding indicates that Stargardt's disease is even more variable than commonly believed. As well, the finding should also underscore the need for genetic testing in the ophthalmic setting because "in case 1, the clinical diagnosis was initially unclear and confounded by findings more consistent with choroidal sclerosis."

All three patients with peripapillary atrophy had a P1380L mutation on ABCA4 but dissimilar concomitant mutations in the gene. In addition, the P1380L mutation was not exclusive to patients in the series with peripapillary atrophy. The P1380L mutation was noted in 13 patients overall in the series.

"Peripapillary lesions may be attributable to specific combinations of ABCA4 mutations rather than single mutations," the study authors said.