Purchase this article with an account.
P.S. Schatz, L. Eksandh, M. Abrahamson, V. Ponjavic, S. Andréasson; Macular Appearance by Means of OCT and Electrophysiology in Members of Two Families with Different Mutations in the Peripherin/RDS Gene . Invest. Ophthalmol. Vis. Sci. 2003;44(13):4890.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
Purpose: Mutations in the peripherin/RDS gene produce a wide variety of retinal degenerations, with respect to extent and severity of involvement. In order to analyze macular as opposed to generalized retinal dysfunction, we used a combination of traditional investigations and newer methodology, including mERG and OCT, in the investigation of members of two families with different mutations in the peripherin/RDS gene. Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of peripherin/RDS gene exons. Patients were examined with clinical examination, full-field ERG, multifocal electroretinography (mERG), and optical coherence tomography (OCT). Results: Family 1: The father and one of his two daughters, were found to be heterozygous for the Arg-46 stop codon mutation in the peripherin/RDS gene. The former presented with generalized retinal and macular dysfunction by electrophysiology. Single line OCT scan showed attenuation of retinal reflectivity in the macula. In the latter, the OCT scan was unremarkable, but reduced macular function was found on examination with mERG. Family 2: In this family a new mutation, Ser-125 Leu in the peripherin/RDS gene was detected. The father presented with severe macular degeneration and the daughter with adult vitelliform maculopathy. Full field ERG and EOG were unremarkable. The daughter had only a slight affection of the macular function in the mERG. The vitelliform lesion was clearly delineated as a hyperreflective band on OCT examination. Conclusions: By using a combination of traditional investigations and newer methodology, including mERG and OCT, we can obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.
This PDF is available to Subscribers Only