PedAM
Pediatric Disease Annotations & Medicines
| Disease | retinal detachment |
| Phenotype | C0035304|retinal degeneration |
| Sentences | 4 |
| PubMedID- 22399687 | Background: knobloch syndrome is defined as a triad of occipital defect, high myopia and vitreo-retinal degeneration (often with later retinal detachment); however, the ocular phenotype is not well defined. |
| PubMedID- 21163348 | Mutations in the collagen xviii gene lead to the knobloch syndrome, which is characterized by high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and occipital encephalocele. |
| PubMedID- 22723992 | Vitreoretinal degeneration is complicated by retinal detachment in alport syndrome [23], leading us to speculate that aberrations in col4a4 may be involved in retinal thinning in cases of lattice degeneration of the retina. |
| PubMedID- 23825967 | A collagen xviii deficiency leads to knobloch syndrome, which is characterized by various pathologies, including viteoretinal degeneration with retinal detachment as well as a neural tube closure defect [33], [34]. |
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