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

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Familial spinocerebellar degeneration with corneal dystrophy.

We report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar abnormalities with variable dorsal column and upper motor neuron involvement. A third sister had only minor spinocerebellar signs but no eye findings, and three other sibs were completely normal. Both affected sisters underwent penetrating keratoplasty and their vision improved. Histologic examination showed findings of corneal dystrophy including corneal edema, thickening of Descemet membrane, and degenerative pannus. High-resolution light and electron microscopy of muscle and sural nerve performed on both patients was abnormal. It is suggested that, in this family, the corneal dystrophy and spinocerebellar degeneration are pleiotropic manifestations of an autosomal-recessive disorder.[1]

References

  1. Familial spinocerebellar degeneration with corneal dystrophy. Der Kaloustian, V.M., Jarudi, N.I., Khoury, M.J., Afifi, A.K., Bahuth, N.B., Deeb, M.E., Shammas, J., Mikati, M.A. Am. J. Med. Genet. (1985) [Pubmed]
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