The present study is the first to assess BCD prevalence in a population of retinitis pigmentosa patients, to describe clinically and angiographically its evolution from first symptom to legal blindness, and to localize the first fundus alterations not only at the posterior pole but also at the equator.
Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. Their contribution to adRP is approximately 5% after correction in relation to mutations found in other genes causing adRP. The patients carrying a mutation in the pre-mRNA splicing-factor PRPF8 gene showed a type 1 diffuse RP. The existence of asymptomatic carriers of the nonsense mutation in the PRPF31 gene suggests incomplete penetrance for these mutations in the families.
ICB resulted in a rapid regression of the iris and angle neovascularization, which permitted to halt the progression of PAS process. This pilot study shows that intracameral injection of bevacizumab may be a helpful adjunct for the surgical treatment of NVG.
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