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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

Conjunctival biopsy in infantile neuroaxonal dystrophy.

PURPOSE: To describe a case of infantile neuroaxonal dystrophy with optic nerve atrophy and to discuss the diagnostic role of conjunctival biopsy. METHODS: We performed a complete ophthalmologic examination and a diagnostic conjunctival biopsy on a girl with a neurodegenerative disease. RESULTS: On the basis of "spheroid" inclusions in the unmyelinated axons, we diagnosed infantile neuoroaxonal dystrophy. CONCLUSIONS: Optic atrophy is an important finding in infantile neuroaxonal dystrophy, and conjunctival biopsy is a reliable and very convenient diagnostic test.[1]

References

  1. Conjunctival biopsy in infantile neuroaxonal dystrophy. Ferreira, R.C., Mierau, G.W., Bateman, J.B. Am. J. Ophthalmol. (1997) [Pubmed]
 
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