Ophthalmologic Findings of Boucher-Neuhäuser Syndrome

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as retinitis pigmentosa...

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Detalles Bibliográficos
Autores principales: Yu, Sun Im, Kim, Jung Lim, Lee, Sul Gee, Kim, Hyun Woong, Kim, Sang Jin
Formato: Texto
Lenguaje:English
Publicado: The Korean Ophthalmological Society 2008
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629917/
https://www.ncbi.nlm.nih.gov/pubmed/19096246
http://dx.doi.org/10.3341/kjo.2008.22.4.263

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2629917/
https://www.ncbi.nlm.nih.gov/pubmed/19096246
http://dx.doi.org/10.3341/kjo.2008.22.4.263

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