Multimodale Bildgebung beim Goldmann-Favre-Syndrom

D. Valler; M. Ulbig; C. P. Lohmann; M. Maier

doi:10.1007/s00347-017-0627-3

Multimodale Bildgebung beim Goldmann-Favre-Syndrom

Translated title of the contribution: Multimodal imaging in Goldmann-Favre syndrome

D. Valler, M. Ulbig, C. P. Lohmann, M. Maier

Department of Ophthalmology

Technical University of Munich

Research output: Contribution to journal › Article › peer-review

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.

Translated title of the contribution	Multimodal imaging in Goldmann-Favre syndrome
Original language	German
Pages (from-to)	878-882
Number of pages	5
Journal	Ophthalmologe
Volume	115
Issue number	10
DOIs	https://doi.org/10.1007/s00347-017-0627-3
State	Published - 1 Oct 2018

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title = "Multimodale Bildgebung beim Goldmann-Favre-Syndrom",

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.",

keywords = "Genetic analysis, Goldmann-Favre syndrome, Hereditary, Multimodal imaging, Retinal degeneration, Retinal dystrophy",

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Multimodale Bildgebung beim Goldmann-Favre-Syndrom

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