Pigmentary retinopathy can indicate the presence of pathogenic <i>LAMP2</i> variants even in somatic mosaic carriers with no additional signs of Danon disease

Abstract

Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of LAMP2 pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life-threatening disease.