Variable expressivity of abca4 gene mutations in an italian family with stargardt disease

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.

Case series.

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.

This is an unusual condition that gives rise to a host of molecular genetics speculations.