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

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Original Article
Clinical science
Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
  1. R Riveiro-Alvarez1,2,
  2. J Aguirre-Lamban1,2,
  3. M Angel Lopez-Martinez1,2,
  4. M Jose Trujillo-Tiebas1,2,
  5. D Cantalapiedra1,2,
  6. E Vallespin1,2,
  7. A Avila-Fernandez1,2,
  8. C Ramos1,2,
  9. C Ayuso1,2
  1. 1
    Fundación Jimenez Diaz, Genetics Department, Madrid, Spain
  2. 2
    Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain
  1. Correspondence to Dr R Riveiro-Alvarez, Fundación Jimenez Diaz, Genetics Department, Avd. Reyes Catolicos 2, 28.040-Madrid, Spain; rriveiro{at}fjd.es

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 ∼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 especial care when genetic counselling is given and further follow-up of these patients should be recommended.

https://doi.org/10.1136/bjo.2008.148155

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    Footnotes

    • Funding Supported by FIS (Health Research Fund) 06/0027, Fundacion Mutua Madrileña (30171/005) and EviGenoRet (LSHG-CT-2005-512036). R R-A’s work is supported by CIBER-ER from the Instituto de Salud Carlos III (06/07/0036).

    • Competing interests None declared.

    • Ethics approval This study was reviewed and approved by the Ethics Committee of the Hospital (Fundacion Jimenez Diaz) and it was performed according to the tenets of the Declaration of Helsinki and further reviews (Edinburgh, 2000; http://www.wma.net).

    • Patient consent Obtained.