Mental Retardation, Severe, With Spasticity And Pigmentary Tapetoretinal Degeneration

Mitchell et al. (1998) reported observations of 9 individuals in a large extended Pakistani family manifesting a syndrome characterized by a triad of varying degrees of spasticity, severe mental retardation, and visual impairment resulting from tapetoretinal degeneration. In all cases, the parents were at least first cousins, since there was complex consanguinity within the pedigree. The clinical features differed from previously reported syndromes involving pigmentary retinal degeneration (which were reviewed in a useful table). Linkage to a 4- to 5-cM region between markers D15S211 and D15S152 on 15q24 was established by autozygosity mapping.