| Literature DB >> 29234872 |
D Valler1, M Ulbig2, C P Lohmann2, M Maier2.
Abstract
Case report of a 23-year-old male patient suffering from Goldmann-Favre syndrome. The patient reported bilateral visual loss since 10 years of age and difficulties with dark adaptation for 2 years. Until recently a final diagnosis was not found. Multimodal imaging using multicolor fundus imaging (MCFI), optical coherence tomography (OCT), fundus autofluorescence (FAF), fluorescein angiography (FLA), electroretinography (ERG) and visual evoked potential (VEP) confirmed the diagnosis. We describe multimodal imaging of this rare hereditary retinal dystrophy. For diagnosis of Goldmann-Favre syndrome a multimodal examination is helpful. To confirm the diagnosis a genetic analysis is necessary.Entities:
Keywords: Genetic analysis; Goldmann-Favre syndrome; Hereditary; Multimodal imaging; Retinal degeneration; Retinal dystrophy
Mesh:
Year: 2018 PMID: 29234872 DOI: 10.1007/s00347-017-0627-3
Source DB: PubMed Journal: Ophthalmologe ISSN: 0941-293X Impact factor: 1.059