Open AccessMacular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene)
Author(s) -
Schatz Patrik,
Abrahamson Magnus,
Eksandh Louise,
Ponjavic Vesna,
Andréasson Sten
Publication year - 2003
Publication title -
acta ophthalmologica scandinavica
Language(s) - English
Resource type - Journals
eISSN - 1600-0420
pISSN - 1395-3907
DOI - 10.1034/j.1600-0420.2003.00134.x
Subject(s) - electroretinography , medicine , retinitis pigmentosa , ophthalmology , macular dystrophy , erg , retinal , optical coherence tomography , maculopathy , retinopathy , endocrinology , diabetes mellitus
. Purpose: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS .Methods: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucleotide sequencing of RDS exons. Patients were examined with clinical evaluation, full‐field electroretinography (ERG), multifocal electroretinography (mfERG) and OCT.Results: An Arg‐46 → stop codon conversion and a Ser‐125 → Leu substitution were found, respectively, in affected members of the two families. Phenotypes included retinitis pigmentosa, central areolar choroidal dystrophy, macular dystrophy and adult vitelliform maculopathy. The vitelliform lesion was clearly delineated on OCT, but mfERG showed preserved function. Optical coherence tomography showed attenuation of retinal reflectivity in two cases.Conclusion: By combining traditional investigations with mfERG and OCT, we were able to obtain a more refined evaluation of contributing macular and generalized retinal dysfunction, respectively, in patients with hereditary retinal disease.