Purchase this article with an account.
J. Hargitai, J. Zernant, G.M. Somfai, R. Vámos, Á. Farkas, J. Nemes, G. Salacz, R. Allikmets; ABCR Mutations and Clinical Phenotype in Hungarian Patients With Stargardt Disease . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1638.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: Autosomal recessive Stargardt disease (STGD) shows substantial genetic and phenotypic heterogenety. Our aim was to correlate foveolar thickness and total macular volume, measured by optical coherence tomography (OCT), with other clinical measures in Hungarian patients dignosed to have Stargardt macular dystrophy. We also analysed morphologic and genetic correlation in our diseased cohort. Methods: Following standard ophthalmic workup eighty eyes of 40 STGD patients from Hungary, aged 15–55 (mean: 28), and 50 eyes of 25 age–matched healthy individuals were assessed with OCT (Humphrey–Zeiss Instruments, USA). Six 6mm long radial scans manually centered on the fovea were obtained from all eyes. Foveolar thickness (FT) and total macular volume (TMV) were measured automatically with the OCT mapping software. For genotype/phenotype correlation studies, patients were classified in the subgroups according to Fishman et al. All patients were screened for mutations by a combination of the ABCR400 microarray and direct sequencing. Results: Mean logMAR visual acuity was 0.75 in the diseased group. STGD patients presented with markedly thinned retina in the foveola and decreased macular volume, 72µm and 1.69mm3, respectively, compared to 169µm and 2.48mm3 in the normal subjects. We observed a linear correlation between log MAR visual acuity and macular volume in STGD patients. A significant correlation was also found between logMAR visual acuity and foveolar thickness. Disease–associated mutations were detected in 27/40 patients (67.5%), including 47.5% of patients with both alleles and 20% with one allele. The most frequent alleles in Hungarian population included the complex allele L541P/A1038V, the G1961E mutation and the IVS40+5 G<A allele at 25%, 20% and 20% respectively. We were able to find some correlation between certain genotype and phenotype features. Conclusions: Hungarian STGD patients showed markedly decreased FT and TMV, and both correlated with visual acuity in linear fashion. ABCA4 alleles were detected in high frequency. Unusually homogeneous distribution of disease–associated mutations in Hungarians would aid genotype/phenotype correlation analyses, however the size of the observed cohort will greatly influence any genotype/phenotype correlation analyses. Therefore we suggest to establish clinical evaluation standards so that studies by different observers could be comparable or combinable.
This PDF is available to Subscribers Only