Spinocerebellar Degeneration And Corneal Dystrophy

Clinical Features

Der Kaloustian et al. (1985) reported 2 sisters born to normal but consanguineous parents with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Manifestations included 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. Penetrating keratoplasty resulted in improved vision. Histology of the cornea demonstrated corneal edema, thickened Descemet membrane, and degenerative pannus. Histologic abnormalities were found in muscle and sural nerve. A sister had minor spinocerebellar signs but no corneal abnormality. See 271320.

Inheritance

The transmission pattern of spinocerebellar degeneration and corneal dystrophy in the family described by Der Kaloustian et al. (1985) was consistent with autosomal recessive inheritance.