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Review
. 2009 Oct;93(10):1359-64.
doi: 10.1136/bjo.2008.148155. Epub 2008 Oct 31.

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

R Riveiro-Alvarez  1 , J Aguirre-Lamban, M Angel Lopez-Martinez, M Jose Trujillo-Tiebas, D Cantalapiedra, E Vallespin, A Avila-Fernandez, C Ramos, C Ayuso
Affiliations
Review

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease

R Riveiro-Alvarez et al. Br J Ophthalmol. 2009 Oct.

Abstract

Aim: To determine the carrier frequency of ABCA4 mutations in order to achieve an insight into the prevalence of autosomal recessive Stargardt disease (arSTGD) in the Spanish population.

Methods: arSTGD patients (n = 133) were analysed using ABCR400 microarray and sequencing. Control subjects were analysed by two different strategies: 200 individuals were screened for the p.Arg1129Leu mutation by denaturing-HPLC and sequencing; 78 individuals were tested for variants with the microarray and sequencing.

Results: For the first strategy in control subjects, the p.Arg1129Leu variant was found in two heterozygous individuals, which would mean a carrier frequency for any variant of approximately 6.0% and a calculated arSTGD prevalence of 1:1000. For the second strategy, carrier frequency was 6.4% and therefore an estimated prevalence of the disease of 1:870.

Conclusion: Calculated prevalence of arSTGD based on the ABCA4 carrier frequency could be considerably higher than previous estimation. This discrepancy between observed (genotypic) and estimated (phenotypic) prevalence could be due to the existence of non-pathological or low penetrance alleles, which may result in late-onset arSTGD or may be implicated in age-related macular degeneration. This situation should be regarded with special care when genetic counselling is given and further follow-up of these patients should be recommended.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Algorithm representing the case–control study: two different molecular approaches were performed; results were compared by statistical analysis. ar, autosomal recessive; dHPLC, denaturing-HPLC; STGD, Stargardt disease.
Figure 2
Figure 2
The spectrum of ABCA4 disease-associated alleles identified in Spanish Stargardt disease (STGD) patients and relative frequencies. Of these, the prevalent p.Arg1129Leu variant represented the 26% of the mutant alleles.
See this image and copyright information in PMC

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