Nikopoulos et al. (2010) studied 2 large, unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy. Patients in both families invariably displayed the peripheral avascular area characteristic of FEVR. Visual acuity varied considerably, ranging from normal to light perception ... Nikopoulos et al. (2010) studied 2 large, unrelated Dutch families segregating autosomal dominant exudative vitreoretinopathy. Patients in both families invariably displayed the peripheral avascular area characteristic of FEVR. Visual acuity varied considerably, ranging from normal to light perception only, as a result of secondary defects such as retinal detachment and retinal exudates.
Using conventional Sanger sequencing in 2 large Dutch families segregating autosomal dominant exudative vitreoretinopathy mapping to chromosome 7, Nikopoulos et al. (2010) confirmed that a variant detected in the candidate gene TSPAN12 (A237P; 613138.0001) was present in heterozygosity ... Using conventional Sanger sequencing in 2 large Dutch families segregating autosomal dominant exudative vitreoretinopathy mapping to chromosome 7, Nikopoulos et al. (2010) confirmed that a variant detected in the candidate gene TSPAN12 (A237P; 613138.0001) was present in heterozygosity in the probands of both families and in their affected relatives. The variant, which was not found in 140 ethnically matched controls, was also detected in 3 relatives of uncertain clinical status and in 1 healthy individual, suggesting nonpenetrance. Analysis of the TSPAN12 gene in 9 additional Dutch FEVR probands in whom mutations in known FEVR genes had been excluded revealed that the A237P change segregated with the phenotype in 2 of the families, whereas a different missense mutation (G188R; 613138.0002) was found in 2 affected brothers from a third family. Poulter et al. (2010) screened the TSPAN12 gene in 70 FEVR patients in whom mutations in known FEVR genes had been excluded, and identified 7 heterozygous mutations not present in controls (see, e.g., 613138.0003-613138.0006). The authors stated that there was no correlation between particular mutations or mutation types and phenotypes, and that the variation in eye phenotypes was similar to that reported with other FEVR-causing genes. Kondo et al. (2011) screened for mutations in the TSPAN12 gene in 90 Japanese probands with FEVR and identified a heterozygous mutation in 3: a previously reported L140X mutation (613136.0004) in 2 and a novel L245P mutation (613136.0007) in 1. The clinical signs and symptoms varied among the patients, but the retinal findings were not different from patients with mutations in other known FEVR-causing genes. Kondo et al. (2011) concluded that mutant TSPAN12 is responsible for approximately 3% of FEVR patients in Japan.