Familial spinocerebellar degeneration with corneal dystrophy.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Der Kaloustian, VM; Jarudi, NI; Khoury, MJ; Afifi, AK; Bahuth, NB; Deeb, ME; Shammas, J; Mikati, MA

Published Date

  • February 1985

Published In

Volume / Issue

  • 20 / 2

Start / End Page

  • 325 - 339

PubMed ID

  • 3872072

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320200216


  • eng

Conference Location

  • United States