Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia, also known as Mousa-AlDin-AlNassar syndrome is a very rare syndrome, characterized by the presence of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. This disease has been first identified in an inbred Bedouin family.
Mousa et al. (1986) described a Bedouin family with an unusual form of spinocerebellar degeneration. Spastic ataxia was found to be associated with congenital cataracts, macular corneal dystrophy and non-axial myopia, in the absence of retardation of somatic or mental maturation. Immunological abnormalities were common. Genetic analysis revealed that the pedigree is expressing the transmission and segregation of a single mutant autosomal recessive gene.
Farag et al. (1993) screened 400 institutionalized mentally retarded (IQ less than 50) patients in Kuwait during a four years period from January 1986 to January 1990. Two of the patients were found to be suffering from Spinocerebellar Degeneration with Macular Corneal Dystrophy, Congenital Cataracts, and Myopia Syndrome.