Literature DB >> 13130265

[Macular dystrophies].

E Souied1, J Kaplan, G Coscas, G Soubrane.   

Abstract

Macular dystrophies are a group of hereditary disorders of the macula occurring in children or young adults. The most frequent in France will be presented in detail: Best disease, Stargardt macular dystrophy, cone dystrophy, X-linked retinoschisis, pattern dystrophy, and malattia leventinese. Molecular biology studies have now mapped and identified the genes involved in these macular dystrophies. Analysis of the features of fundus examination will lead to further examinations such as fluorescein angiography, indocyanine green angiography, optical coherent tomography, electroretinography, or electrooculography, in order to confirm the diagnosis. We will also present the differential diagnosis of each of these macular dystrophies.

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Year:  2003        PMID: 13130265

Source DB:  PubMed          Journal:  J Fr Ophtalmol        ISSN: 0181-5512            Impact factor:   0.818


  3 in total

1.  Analysis of retinal flecks in fundus flavimaculatus using optical coherence tomography.

Authors:  G Querques; N Leveziel; N Benhamou; M Voigt; G Soubrane; E H Souied
Journal:  Br J Ophthalmol       Date:  2006-06-05       Impact factor: 4.638

2.  In vivo visualization of photoreceptor layer and lipofuscin accumulation in stargardt's disease and fundus flavimaculatus by high resolution spectral-domain optical coherence tomography.

Authors:  Giuseppe Querques; Rosy Prato; Gabriel Coscas; Gisèle Soubrane; Eric H Souied
Journal:  Clin Ophthalmol       Date:  2009-12-29

3.  BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.

Authors:  Andrea Sodi; Ilaria Passerini; Vittoria Murro; Roberto Caputo; Giacomo Maria Bacci; Mirela Bodoj; Francesca Torricelli; Ugo Menchini
Journal:  Mol Vis       Date:  2012-11-17       Impact factor: 2.367

  3 in total

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