Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation is an extremely rare disorder characterized by nonprogressive spastic quadriplegia, retinitis pigmentosa, and intellectual deficit. The retinitis pigmentosa is accompanied by loss of vision. Affected patients may also show hearing loss. The condition was first described in two brothers born to Old American consanguineous parents. There have been very few reports of this condition since then.
Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986-1990). One patient was diagnosed with Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation.