Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome.
A Bedouin family is described 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.
Mousa
A R
AR
Al-Din
A S
AS
Al-Nassar
K E
KE
Al-Rifai
K M
KM
Rudwan
M
M
Sunba
M S
MS
Behbehani
K
K
D002386:Cataract / Q000151:congenital / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D009216:Myopia / Q000235:genetics*; D009898:Optic Disk / Q000002:abnormalities*; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000235:genetics*; D014057:Tomography, X-Ray Computed