RESUMEN
Introducción. Las alteraciones oculares contribuyen a caracterizar los diferentes tipos de ataxias espinocerebelosas (SCA); la retinitis pigmentosa es una alteración asociada específicamente a la SCA tipo 7 y se caracteriza por ceguera nocturna, deslumbramiento y constricción progresiva del campo visual. Caso clínico. Mujer de 34 años con clínica de ataxia progresiva y trastorno visual secundario a retinitis pigmentosa. Presentaba antecedentes personales con un patrón autosómico dominante de un trastorno similar en su padre y abuela paterna. En el estudio genético presentaba una expansión de tripletes en el gen de la SCA tipo 2. Conclusiones. Aunque la retinitis pigmentosa forma parte del fenotipo de SCA tipo 7, nuestra paciente, al igual que en otros casos de SCA tipo 2, presentó este trastorno retiniano, por lo que se debe realizar un estudio genético para SCA tipo 2 en pacientes con un cuadro atáxico degenerativo y que presenten datos de retinitis pigmentosa (AU)
Introduction. Ocular disorders are useful in the characterisation of the different types of spinocerebellar ataxias (SCA); pigmentary retinitis is an alteration that is specifically associated to SCA type 7 and is characterised by night blindness, sensitivity to glare and progressive narrowing of the visual field. Case report. A 34-year-old woman with clinical symptoms of progressive ataxia and visual impairment secondary to pigmentary retinitis. The patient had a personal history with an autosomal dominant pattern of a similar disorder in her father and paternal grandmother. In the genetic study she presented a triplet expansion in the SCA type 2 gene. Conclusions. Although pigmentary retinitis belongs to the SCA type 7 phenotype, our patient presented this retinal disorder, as in other cases of SCA type 2. A genetic study for SCA type 2 must therefore be conducted in patients with a degenerative ataxic clinical picture and who present evidence of pigmentary retinitis (AU)
Asunto(s)
Humanos , Masculino , Femenino , Adulto , Retinitis Pigmentosa/genética , Ataxias Espinocerebelosas/genética , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/fisiopatología , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/fisiopatología , Proteínas del Tejido Nervioso/genéticaRESUMEN
INTRODUCTION: Ocular disorders are useful in the characterisation of the different types of spinocerebellar ataxias (SCA); pigmentary retinitis is an alteration that is specifically associated to SCA type 7 and is characterised by night blindness, sensitivity to glare and progressive narrowing of the visual field. CASE REPORT: A 34-year-old woman with clinical symptoms of progressive ataxia and visual impairment secondary to pigmentary retinitis. The patient had a personal history with an autosomal dominant pattern of a similar disorder in her father and paternal grandmother. In the genetic study she presented a triplet expansion in the SCA type 2 gene. CONCLUSIONS; Although pigmentary retinitis belongs to the SCA type 7 phenotype, our patient presented this retinal disorder, as in other cases of SCA type 2. A genetic study for SCA type 2 must therefore be conducted in patients with a degenerative ataxic clinical picture and who present evidence of pigmentary retinitis.
Asunto(s)
Proteínas del Tejido Nervioso/genética , Retinitis , Ataxias Espinocerebelosas , Adulto , Ataxina-7 , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Linaje , Retinitis/genética , Retinitis/patología , Retinitis/fisiopatología , Ataxias Espinocerebelosas/genética , Ataxias Espinocerebelosas/fisiopatologíaRESUMEN
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