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


METHODS
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.
From the *Department of Ophthalmology, University of Florence, Florence, Italy; and the †Department of Genetic Diagnosis, Careggi University Hospital, Florence, Italy.
Andrea
A
Sodi
Alessandro
A
Bini
Ilaria
I
Passerini
Marco
M
Puccioni
Francesca
F
Torricelli
Ugo
U
Menchini