| First Author | Chang B | Year | 1998 |
| Journal | Invest Ophthalmol Vis Sci | Volume | 39 |
| Issue | 4 | Pages | S880 (Abstr.) |
| Mgi Jnum | J:55816 | Mgi Id | MGI:1344665 |
| Citation | Chang B, et al. (1998) A new mouse model of retinal dysplasia and degeneration (rd7). Invest Ophthalmol Vis Sci 39(4):S880 (Abstr.) |
| abstractText | A NEW MOUSE MODEL OF RETINAL DYSPLASIA AND DEGENERATION (rd7). ((B. Chang1, J.R. Heckenlively2, N.L. Hawes1, M.T. Davisson1)) The Jackson Laboratory, Bar Harbor, Maine, Jules Stein Eye Institute, Harbor-UCLA Medical Center, Torrance, California2. Purpose: To report the clinical appearance, histology, and gene mapping of a new hereditary retinal dysplasia and degeneration model. Methods: We have been screening mouse strains and stocks at The Jackson Laboratory to identify mouse models of human hereditary ocular disorders. We have characterized rd7 clinically with serial indirect ophthalmoscopy and fundus photography, electroretinography (ERG), histology, and linkage studies. Results: Large retinal spots, which cover the entire retina, are observed as early as 3 weeks of age and disappear by about 5 months. Electroretinograms demonstrate initial attenuation of the a- and b-waves compared to normal controls, which remains relatively stable for one year, at which time further progressive amplitude loss is noted. Light microscopy shows retinal "waves", whorls and rosettes with subsequent photoreceptor degeneration. Genetic analysis shows that this disorder is caused by an autosomal recessive mutation that maps to mouse Chromosome 9. Discussion: Retinal degeneration 7 (rd7) has similarities to human flecked retinal disorders such as fundus flavimaculatus or retinitis punctata albescens. The histologic pathology of human retinal spots in fundus flavimaculatus and retinitis punctata albescens is not documented in the literature, because human ocular specimens are not readily available. Thus, this new retinal dysplasia and degeneration model may give valuable clues about human retinal dot disorders. Supported by NIH RO1 EY07758. NONE |
