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Giulia Corradetti, Sergio Zaccaria Scalinci, Enrico Meduri, Alessandro Meduri, Lucia Scorolli; Structural and Functional Findings using Microperimetry, Spectral Domain Optical Coherence Tomography, Autofluorescence and multifocal electroretinogram in 14 children with Stargardt Disease with mutations in the ABCA4 gene. Invest. Ophthalmol. Vis. Sci. 2012;53(14):4372.
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To analyze structural and functional data in 14 children with Stargardt Disease with mutations in the ABCA4 gene and assess their correlation. Moreover we demonstrated how useful these examinations are useful in order to make an early diagnosis of Stargardt Disease.
14 children (28 eyes) aged between 12 and 15 years, affected by Stargardt Disease onset with mutations in the ABCA4 gene were enrolled in this prospective study and were evaluated best-corrected visual acuity (BCVA), fundus autofluorescence (AF), spectral domain optical coherence tomography (SD-OCT), multifocal electroretinogram (mfERG) and microperimetry (MP-1). Mutations in the ABCA4 gene was achieved after genetic analysis.
BCVA ranged between 0.6 logMAR and 1.0 logMAR, evaluated using ETDRS charts. Clinical evaluation of retina was based on fundus biomicroscopy with direct illumination. All children in the study underwent a SD-OCT, AF, mfERG and MP-1. At onset, structural and functional findings in all children examinated appeared well correlated (P<0.01). MP-1 allowed us to evaluated and quantify the retinal sensitivity in this hereditary retinal dystrophy.
SD-OCT, AF, mfERG and MP-1 are well correlated with the reduced BCVA in patients with Stargardt Disease, but these examinations are less correlated to retinal findings (p<0.01). The poor vision is due to gradual lack of retinal sensitivity.
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