Sixteen known pathological genetic variants were identified in ABCA4 gene in Greek patients with retinal dystrophies.

Two novel variants were found in patients with Stargardt’s disease and cone-rod dystrophy respectively.

Two reported mutations in Stargardt's patients were identified in retinitis pigmentosa and cone-rod dystrophy patients.

The mutations p.Gly1961Glu and p.Ala1038Val, which are common in other populations, where also found in our cohort consisted of 26 Greek patients.

Array-comparative genome hybridization revealed large deletions in two out of the 25 cases studied.