PedAM
Pediatric Disease Annotations & Medicines
| Disease | cataract |
| Phenotype | C0442874|neuropathy |
| Sentences | 2 |
| PubMedID- 23781337 | In this instance, a premature blue cerulean cataract associated with optic neuropathy cosegregated in two french families as an autosomal dominant trait [27, 79]. |
| PubMedID- 23808173 | Dna samples of 50 patients with optic neuropathy (on) associated with congenital cataract were studied to find 3 major mt-dna mutations (m.11778g>a, m.3460g>a, m.14484t>c), mutations in "hot" regions of opa 1 gene (exons 8, 14, 15, 16, 18, 27, 28) and in the entire coding sequence of opa3 gene for molecular genetic confirmation of diagnosis of hereditary leber and autosomal dominant on. |
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