Goldmann-Favre Syndrome: Case Series
نویسندگان
چکیده
منابع مشابه
Goldmann-Favre Syndrome: Case Series
Goldmann-Favre syndrome, which is caused by mutation of the NR2E3 gene, is a retinal degenerative disease with a wide spectrum of phenotypic properties. Variations in clinical presentation result in difficulties in differential diagnosis. In this article, Goldmann-Favre syndrome cases with different clinical findings are presented. Clinical characteristics of our cases were reviewed and discuss...
متن کاملDiagnostic features of the Favre-Goldmann syndrome.
Extensive retinal vascular disease was noted in three patients from two families with Favre-Goldmann syndrome. In addition to classical features they had pronounced leakage from some retinal vessels. Vessels were either opaque ('sclerotic') or non-perfused. Cystoid macular oedema was a contributing cause of decreased vision. Two of the three patients showed a discrepancy on electroretinography ...
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The purpose of this study is to describe the correlation of findings between results from spectral domain optical coherence tomography (SD-OCT) and microperimetry in a case series regarding patients with Goldmann-Favre syndrome. Goldmann-Favre syndrome is a rare autosomal recessive hereditary vitreo-retinal degeneration that impacts the functionality of vision in subjects. Three men with this c...
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We report the case of a man with a history of sun exposure and cigarette smoking and development of FavreRacouchot syndrome describing its characteristics and possible prevention. The patient is a 61yearoldman who presents at our clinic because of an asymmetric dermatosis on the left malar region that spread to the left back part of the nose and has evolved during the last 5 years. Physical exa...
متن کاملFavre-racouchot Syndrome
This paper describe a typical case of Favre-Racouchot syndrome in a 70-year-old farmer. The exact pathogenesis of Favre-Racouchot syndrome remains obscure but apparently extensive exposure to sun and harsh weather is perhaps largely responsible as had been in the described case.
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ژورنال
عنوان ژورنال: Türk Oftalmoloji Dergisi
سال: 2018
ISSN: 1300-0659
DOI: 10.4274/tjo.76158