![]() ![]() Many patients with X-linked FEVR report no vision problems, although all have some degree of retinal avascularity and a significant portion have more severe pathology ( Guyer et al., 1999). In addition, the X-linked form of familial exudative vitreoretinopathy (FEVR) was found to be caused by missense mutations in NDP ( Chen et al., 1993 Fuchs et al., 1995 Meindl et al., 1995 Torrente et al., 1997 Shastry et al., 1997 Shastry, 1998). Since the Norrie disease gene, NDP (Norrie disease, pseudoglioma), was cloned ( Berger et al., 1992 Chen et al., 1992), >80 different mutations have been found (Online Mendelian Inheritance in Man, 2001). Also, mental retardation and/or psychotic features develop in approximately two-thirds of patients ( Gorlin et al., 1995). Rehm, unpublished observations), although its onset may range from 4 months to 45 years ( Gorlin et al., 1995). Most, if not all, patients manifest hearing loss ( Parving and Warburg, 1977 C. An additional ocular phenotype of note is a partial avascularity of the retina. The characteristic feature is congenital bilateral blindness with a prominent intraocular mass (pseudoglioma). Norrie disease is an X-linked recessive neurological syndrome that has been characterized extensively by Warburg (1961, 1963, 1965, 1966). We propose that one of the principal functions of norrin in the ear is to regulate the interaction of the cochlea with its vasculature. Fluorescent dyes showed an abnormal vasculature in this region and eventual loss of two-thirds of the vessels. The primary lesion was localized to the stria vascularis, which houses the main vasculature of the cochlea. As is seen in humans, the mice had progressive hearing loss leading to profound deafness. ![]() We examined the hearing phenotype, including audiological, histological, and vascular evaluations. ![]() A knock-out mouse model with an Ndp gene disruption was studied. ![]() Norrie disease is an X-linked recessive syndrome of blindness, deafness, and mental retardation. ![]()
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