Dvir et al. (2010) studied an extended Israeli Muslim Arab pedigree segregating severe early-onset autosomal recessive retinitis pigmentosa in which affected individuals had markedly constricted visual fields, ranging from 10% to less than 5%, with tiny residual islands ... Dvir et al. (2010) studied an extended Israeli Muslim Arab pedigree segregating severe early-onset autosomal recessive retinitis pigmentosa in which affected individuals had markedly constricted visual fields, ranging from 10% to less than 5%, with tiny residual islands of central vision. Nevertheless, best-corrected visual acuity was relatively good. Both scotopic and photopic electroretinograms were severely reduced or completely extinct as early as 4 years of age. Funduscopy showed typical bone spicule-type pigment deposits spread mainly at the midperiphery, as well as optic disc pallor. Macular involvement was indicated by the lack of foveal reflex and typical cystoid macular edema, confirmed by optical coherence tomography. Dvir et al. (2010) noted that these findings were similar to those reported in patients with RP due to mutations in the PDE6A (RP43; see 180071) and PDE6B genes (RP40; 613801).
In an extended Israeli Muslim Arab pedigree segregating autosomal recessive RP mapping to chromosome 17q25.3, Dvir et al. (2010) sequenced the candidate PDE6G gene and identified homozygosity for a splice site mutation in affected individuals (180073.0001); all unaffected ... In an extended Israeli Muslim Arab pedigree segregating autosomal recessive RP mapping to chromosome 17q25.3, Dvir et al. (2010) sequenced the candidate PDE6G gene and identified homozygosity for a splice site mutation in affected individuals (180073.0001); all unaffected family members were heterozygotes or carried 2 wildtype alleles. No carriers of the splice site mutation were found among 256 Muslim Israeli controls, including 135 Muslim Arabs from northern Israel, 70 Muslim Arabs from central Israel, and 51 Bedouins. However, the mutation was detected in heterozygosity in 7 (8.3%) of 84 randomly selected adults from the same village in which the RP57 family resides, indicating that it represents a founder mutation in that village.