| First Author | Black GC | Year | 2003 |
| Journal | Hum Mol Genet | Volume | 12 |
| Issue | 24 | Pages | 3269-76 |
| PubMed ID | 14570707 | Mgi Jnum | J:129156 |
| Mgi Id | MGI:3768748 | Doi | 10.1093/hmg/ddg356 |
| Citation | Black GC, et al. (2003) Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development. Hum Mol Genet 12(24):3269-76 |
| abstractText | Mutations in Patched (PTCH), encoding the Hedgehog (Hh) receptor, underlie Basal Cell Naevus syndrome (BCNS) and, in addition to tumor predisposition, are associated with a wide range of 'patterning' defects. The basis for the underlying patterning problems in Hh-dependent tissues in BCNS and their long-term consequences on tissue homeostasis are, however, not known. Hh signaling is required for normal growth and organization of the mammalian retina and we show that PtchlacZ+/- mice exhibit vitreoretinal abnormalities resembling those found in BCNS patients. The retinas of PtchlacZ+/- mice exhibit abnormal cell cycle regulation, which culminates in photoreceptor dysplasia and Muller cell-derived gliosis. In BCNS, the intraretinal glial response results in epiretinal membrane (ERM) formation, a proliferative and contractile response on the retinal surface. ERMs are a cause of significant visual loss in the general, especially elderly, population. We hypothesize that alteration of Muller cell Hh signaling may play a role in the pathogenesis of such age-related 'idiopathic' ERMs. |
