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Sergio Zaccaria Scalinci, Lucia v Scorolli; Microperimetric study, multifocal erg ,spectral domain optical coherence tomography in 8 children with best syndrom (vitelliform macular distrophy type 2 gene VMD2, 11q13). Invest. Ophthalmol. Vis. Sci. 2014;55(13):3386.
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To analyze structural and functional data in 8 children with Best desease with mutations inVMD2 gene and asses their correlation. We demonstrated how useful these examinations are in order to make and monitorized Best desease.
8 children aged 10-13 years affected by Best distrophy onset with mutations in VMD2 gene were enrolled in this prospective study and were evaluated best corrected visual acuity (BCVA),spectral domain optical coherence tomography (SD-OCT), multifocal electroretinogram(mfERG), and microperimetry (MP-1). Mutations in VMD2 gene was achieved after genetic analysis.
BCVA ranged between 0.6 logMAR and 1.0 logMAR, evaluated using ETDRS charts. All children in the study underwent a SD-OCT,mfERG and MP-1. At onset structural and functional findings in all children examinated appared well correlated (p<0.01), MP-1 allowed us to evaluated and quantify the retinal sensitivity in this hereditary retinal dystrophy.
SD-OCT, mfERG and MP-1 are well correlated with the redused BCVA in patients with Best desease but these examinations are less correlated to retinal findings (p<0.01). The poor vision is due gradual lack of retinal sensitivity .
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