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M. Fossarello, M. Mura, M. Carta, S. Galantuomo, I. Zucca, A. Serra; A parafoveal ring of autofluorescence is a marker of disease in a large family with autosomal dominant sector RP associated with rhodopsin gene codon 190 mutation . Invest. Ophthalmol. Vis. Sci. 2004;45(13):5107.
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Purpose: to investigate the correlation between the genotype and the phenotypic pattern of fundus autofluorescence in a large family with autosomal dominant sector RP. Methods: A large Sardinian family (fig. 1) with a clinical diagnosis of autosomal dominant sector RP over at least 4 generations, was investigated genetically and clinically. Ophthalmologic examination included refraction, best visual acuity at distance, slit lamp examination, fundoscopy, fundus photography, fundus autofluorescence (SLO–HRA Heidelberg) computerized perimetry (Humphrey), microperimetry (Nidek) color vision (Lanthony Panel D 15 test) dark adaptometry (Goldmann–Weekers) and electroretinography. Results: A guanine–to–adenine mutation in the first nucleotide of rhodopsin codon 190, resulting in an aspartate–to–asparagine change, was found to be associated with the RP phenotype. Out of 40 documented members, 11 resulted to be affected. All of them showed a variably sized parafoveal ring of autofluorescence together with visual function and fundus changes typical of sector Retinitis Pigmentosa. In two young children (5 and 7 yrs), the parafoveal ring of autofluorescence was the only detectable clinical sign. The genetic analysis demonstrated that they were affected. Conclusions: A parafoveal ring of autofluorescence may predict photoreceptor degeneration in RP and represent a diagnostic clinical parameter. View OriginalDownload SlideView OriginalDownload Slide
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