Purpose: Stargardt disease is a juvenile-onset macular dystrophy that can be inherited in an autosomal recessive manner. The gene responsible for the disease is ABCR, which encodes for a retinal protein. The authors report an Italian family with a variable expressivity of ABCR gene mutations.
Method: Case series.
Results: ABCR mutations in both alleles were detected in two affected patients and in three of their healthy relatives. In this family two brothers presented a typical clinical picture of Stargardt disease while the third sister did not have any visual symptom and did not show any fundus abnormalities. Both parents seemed unaffected.
Conclusions: This is an unusual condition that gives rise to a host of molecular genetics speculations.