Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia

Clinical Features

Mousa et al. (1986) described a syndrome of spastic ataxia in association with congenital cataracts, macular corneal dystrophy, and nonaxial myopia in an inbred Bedouin family. Somatic and mental development was normal. Mousa et al. (1986) concluded that this disorder is different from the disorder described by Der Kaloustian et al. (1985); see 271310. They noted that the corneal dystrophy was stromal with deposition of mucoid material in their family, whereas in the family of Der Kaloustian et al. (1985) it was thought to be epithelial in nature; furthermore, mental retardation was present in the cases of Der Kaloustian et al. (1985). From examination of the pedigree presented by Mousa et al. (1986), it is by no means clear that they are dealing with more than one recessively inherited disorder. Indeed, the proband in this family (referred to by Mousa et al. (1986) as the 'marker case') had Bartter syndrome (see 241200), which brought the patient to clinical attention.