The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical examination. The ABCA4 gene loci were sequenced and aligned to a reference gnome. Variants were then assessed. Thirty variants were detected in the 54 ABCA4 alleles of the 27 patients. Two of these were as-yet unreported variants: one classified as a variant of uncertain significance and one as a likely pathogenic variant. This relatively small study was not able to establish correlation between genotype and clinical severity or age of onset, though a claim for a tendency towards earlier age at onset for patients homozygous for truncated variants is made. A finding of possible significance is the relative frequency of the c.52C>T variant in this population compared to other studies, which may suggest it to be a more common pathogenic mutation in the Turkish population than in other groups. Overall, this is a small study of ABCA4 variants causing Stargardt disease, highlighting that inter-ethnicity differences may be found in causative gene variants.
Stargardt disease in a Turkish cohort
Reviewed by Ian Reekie
ABCA4 variant screening in a Turkish cohort with Stargardt disease.
CONTRIBUTOR
Ian Reekie
Sandwell and West Birmingham Hospitals NHS Trust, Birmingham, UK.
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