Daniela de Carvalho Tasso*, Bárbara Lucia Azevedo L. A. da Silva, TammyFumiko M. Takara, Edi Lúcia Sartorato, Guilherme Machado de Carvalho, Brazílio de Carvalho Tasso and Carlos Eduardo Leite Arieta
Abstract:
Introduction: Usher Syndrome is a rare syndrome caused by an autosomal recessive genetic disorder and is the most common cause of blindness and deafness combined, representing more than 50% of cases.
Objective: This article aims to review the literature on Usher syndrome along with the presentation of a clinical picture.
Methods: Review of the medical literature in PubMed and SciELO / Lilacs, using the MeSH terms:”Usher syndrome”, “genetic hearing loss” and “retinitis pigmentosa”.
Case report: A case presents a 37-year-old woman patient detected with Usher syndrome. She reported hearing and visual loss since childhood. The onset was with nyctalopia evolving to peripheral field deprivation in both eyes a few years ago. She underwent ophthalmologic examination with dynamic refraction, ocular applanation tonometry,retinography, fluoresce in angiography and computerized visual field, the electroretinography was requested but was not available in the service. Eye fundus biomicroscopy revealed mild temporal pallor of the optic disk, diffuse retinalblood vessel narrowing, retinal sparse hyperpigmentation. The patient uses hearing aids (HA) since adolescence and a audiometric test was performed good adaptation. No alterations were found in the search for mutations in the GJB2 gene and mitochondrial mutations A155G.
Discussion: The diagnosis of Usher syndrome is difficult and genetic testing can support this evaluation. We believe that its early diagnosis can bring several benefits, as genetic counseling and better rehabilitation, reducing the damage caused by this syndrome, which has no direct treatment. Unfortunately there is no cure for the disease.
Conclusion: This syndrome should be considered as a differential diagnosis in patients who have combined loss of visual acuity and hearing.
Introduction: Usher Syndrome is a rare syndrome caused by an autosomal recessive genetic disorder and is the most common cause of blindness and deafness combined, representing more than 50% of cases.
Objective: This article aims to review the literature on Usher syndrome along with the presentation of a clinical picture.
Methods: Review of the medical literature in PubMed and SciELO / Lilacs, using the MeSH terms:”Usher syndrome”, “genetic hearing loss” and “retinitis pigmentosa”.
Case report: A case presents a 37-year-old woman patient detected with Usher syndrome. She reported hearing and visual loss since childhood. The onset was with nyctalopia evolving to peripheral field deprivation in both eyes a few years ago. She underwent ophthalmologic examination with dynamic refraction, ocular applanation tonometry,retinography, fluoresce in angiography and computerized visual field, the electroretinography was requested but was not available in the service. Eye fundus biomicroscopy revealed mild temporal pallor of the optic disk, diffuse retinalblood vessel narrowing, retinal sparse hyperpigmentation. The patient uses hearing aids (HA) since adolescence and a audiometric test was performed good adaptation. No alterations were found in the search for mutations in the GJB2 gene and mitochondrial mutations A155G.
Discussion: The diagnosis of Usher syndrome is difficult and genetic testing can support this evaluation. We believe that its early diagnosis can bring several benefits, as genetic counseling and better rehabilitation, reducing the damage caused by this syndrome, which has no direct treatment. Unfortunately there is no cure for the disease.
Conclusion: This syndrome should be considered as a differential diagnosis in patients who have combined loss of visual acuity and hearing.
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