Double cone dystrophy and RPE degeneration in the retina of the zebrafish gnn mutant.

摘要: PURPOSE: To characterize morphologic alterations in the retina of visual mutant zebrafish gantenbein (gnn) and to examine whether these correlate with those present human hereditary eye diseases. METHODS: The gnn was isolated by behavioral macroscopic screening. Retinas larvae were examined at different developmental stages from 2 9 days postfertilization (dpf) standard histologic staining techniques immunocytochemistry. Ultrastructural electron microscopy. genetic map position induced mutation identified mapping two candidate primer pairs on single larvae. RESULTS: exhibited shortened outer photoreceptor segments altered RPE morphology. In layer mutant, total number lectin-labeled cones reduced all 7 dpf, whereas amount rhodopsin-positive cells remained wild-type (WT) level. Labeling opsin antibodies revealed dystrophic red 5 morphology other cone types largely unaffected. Electron microscopy unveiled electron-dense deposits between discs double segments. addition, onset progressive degeneration observed this stage development. At later stages, became degenerative. distinct second-order neurons unaffected mutation. located approximately 4.3 cM simple sequence length polymorphism (SSLP) marker Z15453 linkage group 16. CONCLUSIONS: zebrafish, cones, especially are early retinal Subsequent dystrophy, becomes dysfunctional starts degenerate Thus, exhibits similarities dystrophies most commonly seen age-related macular (AMD) among humans, resemble retinitis pigmentosa (RP) humans. may therefore be a useful model for examining possible interplay connection dystrophy degeneration.