Naz et al. (2010) studied a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light ... Naz et al. (2010) studied a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP). All affected individuals had progressive night blindness since the age of 8 to 10 years. Vision in affected individuals was limited to light perception or hand movement with no peripheral vision. Fundus photographs of affected individuals showed typical changes of RP, including a waxy pale optic disc, attenuation of retinal arteries, and bone spicule pigment deposits in the midperiphery of the retina. No attenuation of retinal arteries or bone spicule pigment deposits were detected in fundi of unaffected individuals. Affected individuals had typical RP changes on electroretinograms (ERGs), including loss of both rod and cone responses, whereas ERGs of unaffected individuals showed no changes in these responses.
In a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP) mapping to chromosome 2p24.1-p22.3, Naz et al. (2010) sequenced 3 candidate genes but did not find any pathogenic mutations.
In the Pakistani RP family previously ... In a consanguineous Pakistani family segregating autosomal recessive retinitis pigmentosa (RP) mapping to chromosome 2p24.1-p22.3, Naz et al. (2010) sequenced 3 candidate genes but did not find any pathogenic mutations. In the Pakistani RP family previously studied by Naz et al. (2010), Li et al. (2010) analyzed 33 candidate genes and identified a homozygous mutation in the ZNF513 gene (C339R; 613598.0001) that segregated with disease and was not found in 242 ethnically matched controls chromosomes.