May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Correlation of clinical and genetic findings in Stargardt disease patients from Hungary
Author Affiliations & Notes
  • J. Hargitai
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • J. Zernant
    Dept Ophthalmology, Columbia University, New York, NY
  • G.M. Somfai
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • R. Vamos
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • A. Farkas
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • J. Nemes
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • G. Salacz
    2nd Dept Ophthalmology, Semmelweis University, Budapest, Hungary
  • R. Allikmets
    Dept Ophthalmology, Columbia University, New York, NY
  • Footnotes
    Commercial Relationships  J. Hargitai, None; J. Zernant, None; G.M. Somfai, None; R. Vamos, None; A. Farkas, None; J. Nemes, None; G. Salacz, None; R. Allikmets, None.
  • Footnotes
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Investigative Ophthalmology & Visual Science May 2004, Vol.45, 1763. doi:
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      J. Hargitai, J. Zernant, G.M. Somfai, R. Vamos, A. Farkas, J. Nemes, G. Salacz, R. Allikmets; Correlation of clinical and genetic findings in Stargardt disease patients from Hungary . Invest. Ophthalmol. Vis. Sci. 2004;45(13):1763.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Abstract: : Purpose: Mutations in the ABCA4 gene cause a wide variety of clinical phenotypes, including autosomal recessive Stargardt disease (STGD). The genetic heterogeneity underlying the continuum of phenotypes, and STGD in particular, is equally high, complicating genotype/phenotype correlation studies aimed to facilitate precise molecular and clinical diagnosis of STGD patients. One way to overcome this complexity is to define precise, quantifiable phenotypic features, which can be correlated to disease–associated genotypes in large patient cohorts. We sought to correlate foveolar thickness and total macula volume, measured by optical coherence tomography (OCT) in Hungarian patients, with other clinical and genetic data. Methods: Seventy eyes of 35 STGD patients from Hungary, ages 8–45 (mean: 28), and 50 eyes of 25 age–matched healthy individuals were tested 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 in the 9 Early Treatment Diabetic Retinopathy Study areas of 3500µm in diameter. All patients were screened for mutations by a combination of the ABCR400 microarray and direct sequencing. Results: 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 visual acuity and macular volume in STGD patients. A significant correlation was also found between best corrected visual acuity and foveolar thickness. Disease–associated mutations were detected in 23/35 patients (65.7%), including 48.5% of patients with both alleles and 17% with one allele. The most frequent alleles in Hungarian population included the complex allele L541P/A1038V at 14% (28% of patients carried at least one allele); the G1961E mutation and the 5917delG allele at 10% each. Conclusions: STGD patients from Hungary presented with extensive foveolar thinning and macular volume loss. Visual acuity correlated in linear fashion with TMV and FT. Genetic analysis detected several ABCA4 alleles at high frequency in the cohort of Hungarian STGD patients, suggesting founder effect(s). Unusually homogeneous distribution of disease–associated mutations in Hungarians would aid genotype/phenotype correlation analyses in this population.

Keywords: macula/fovea • genetics • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) 
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