Literature DB >> 29234872

[Multimodal imaging in Goldmann-Favre syndrome].

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


  5 in total

1.  [Two cases of hyaloid-retinal degeneration].

Authors:  M FAVRE
Journal:  Ophthalmologica       Date:  1958 May-Jun       Impact factor: 3.250

2.  Enhanced S cone syndrome: evidence for an abnormally large number of S cones.

Authors:  D C Hood; A V Cideciyan; A J Roman; S G Jacobson
Journal:  Vision Res       Date:  1995-05       Impact factor: 1.886

3.  Hereditary retinoschisis and early hemeralopia. A report of two cases.

Authors:  J E MacVicar; H R Wilbrandt
Journal:  Arch Ophthalmol       Date:  1970-05

4.  The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Authors:  S Gerber; J M Rozet; S I Takezawa; L C dos Santos; L Lopes; O Gribouval; C Penet; I Perrault; D Ducroq; E Souied; M Jeanpierre; S Romana; J Frézal; F Ferraz; R Yu-Umesono; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  2000-09       Impact factor: 4.132

5.  Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.

Authors:  S Bernal; T Solans; M J Gamundi; I Hernan; L de Jorge; M Carballo; R Navarro; E Tizzano; C Ayuso; M Baiget
Journal:  Clin Genet       Date:  2008-02-20       Impact factor: 4.438

  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.