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Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
  1. Virginia Miraldi Utz1,
  2. Razek Georges Coussa2,
  3. Meghan J Marino3,
  4. Aimee V Chappelow3,
  5. Gayle J Pauer3,
  6. Stephanie A Hagstrom3,4,
  7. Elias I Traboulsi3,4
  1. 1Abrahamson Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA
  2. 2Department of Ophthalmology, McGill University, Montreal, Quebec, Canada
  3. 3The Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
  4. 4Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio, USA
  1. Correspondence to Dr Elias I Traboulsi, The Cole Eye Institute, Cleveland Clinic, Cleveland, i32 9500 Euclid Avenue, Cleveland, OH 44195, USA; traboue{at}


Purpose To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype.

Methods Retrospective, cross-sectional study of 112 patients with Stargardt disease. We evaluated the correlation between age at presentation, best-corrected visual acuity (BCVA), and ABCA4 genotypes.

Results Mean age at presentation was 30±16 years (range 6–78 years) for the 112 patients of 104 families. 98 of 90 families had a probable molecular diagnosis. We found that BCVA is not related to age of presentation in a linear or polynomial manner; that BCVA of patients presenting in the first decade was significantly worse than those presenting in later decades (p=0.04); that patients who harboured two or more mutations presented earlier and had worse BCVA than those with no or 1 mutation identified by any method of testing (n=112, p=3.29×10−6) or by full sequencing (n=32, p=0.02); that 16 patients with c.5882G>A allele demonstrated better BCVA than the remaining patients (p=0.01); and that 10 patients with the c.5461-10T>C mutation presented earlier (p=0.02×10−5) and had more severe disease.

Conclusions Epidemiological and genotypical findings portend visual prognosis in patients with Stargardt disease. Select sequence variations in ABCA4 may confer a specific phenotype. The present data will help in assessing patients for emerging therapies.

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