Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field ... Bandah-Rozenfeld et al. (2010) examined 12 patients from 7 families with retinal disease and mutations in the IMPG2 gene. In general, affected individuals with IMPG2 mutations displayed typical symptoms and signs of RP, including night blindness, visual field loss, optic disc pallor, attenuated vessels, and bone-spicule-like pigmentation. In 11 of the 12 patients, lens abnormalities were observed: 7 had posterior subcapsular cataracts, 2 had mild cortical cataracts, 1 had pseudophakia, and 1 patient, who was diagnosed with mild maculopathy rather than RP, had mild nuclear sclerosis.
In an Iraqi Jewish family and a Dutch family, both segregating autosomal recessive RP mapping to chromosome 3q12, Bandah-Rozenfeld et al. (2010) analyzed the IMPG2 gene and identified homozygosity for a nonsense mutation (607056.0001) and a 1.8-kb genomic ... In an Iraqi Jewish family and a Dutch family, both segregating autosomal recessive RP mapping to chromosome 3q12, Bandah-Rozenfeld et al. (2010) analyzed the IMPG2 gene and identified homozygosity for a nonsense mutation (607056.0001) and a 1.8-kb genomic deletion (607056.0002), respectively. Analysis of IMPG2 in 10 additional families segregating autosomal recessive retinal disease mapping to chromosome 3q12 revealed 5 additional mutations (see, e.g., 607056.0003-607056.0004), including a missense mutation in a patient who had only mild maculopathy (607056.0005).