The severity of retinal pathology in homozygous Crb1rd8/rd8 mice is dependent on additional genetic factors.
Bottom Line: This suggests that the Crb1(rd8/rd8) mutation is necessary, but not sufficient for the development of these degenerative features.By whole-genome SNP analysis of the genotype-phenotype correlation, a candidate region on chromosome 15 was identified.This study also provides insight into the nature of the retinal vascular lesions that likely represent a clinical correlate for the formation of retinal telangiectasia or Coats-like vasculopathy in patients with CRB1 mutations that are thought to depend on such genetic modifiers.
Affiliation: Department of Genetics and email@example.com.Show MeSH
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Mentions: Topical endoscopic fundal imaging (TEFI), AF-SLO, optical coherence tomography (OCT) and semithin histology revealed that this pathology was mainly confined to the inferior retina of Crb1rd8/rd8 mice (Fig. 2). White/opaque and autofluorescent fundus lesions correlated well with the position of lesions in OCT images at the outer plexiform layer (OPL) and in the outer nuclear layer (ONL) (Fig. 2A–C). Corresponding rosette formation (Fig. 2A and B, white arrows) and drop out and disruption of photoreceptor columns (Fig. 2A–C, arrow heads) were observed in sagittal semithin sections of prominently affected Crb1rd8/rd8 mice. However, not all Crb1rd8/rd8 mice showed these inferior lesions by TEFI or AF-SLO. In particular, in the C57BL/6/Crb1rd8/rd8 (1) mice only small inferior lesions were visible (Fig. 2D) that were very difficult to identify in OCT and semithin sections (Fig. 2D) since these appeared to be very similar to those from wild-type mice (Fig. 2E).Figure 2.