| Autor: |
Dharmaraj, Sharola, Silva, Eduardo, Pina, Ana Luisa, Li, Ying Ying, Yang, Jun-Ming, Carter, Colin R., Loyer, Magali, El-Hilali, Hala, Traboulsi, Elias, Sundin, Olof, Zhu, Danping, Koenekoop, Robert K., Maumenee, Irene H. |
| Předmět: |
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| Zdroj: |
Ophthalmic Genetics; Sep99, Vol. 21 Issue 3, p135, 16p, 4 Black and White Photographs, 3 Diagrams, 5 Charts |
| Abstrakt: |
Leber congenital amaurosis (LCA, MIM 204001) isa clinically and genetically heterogeneous retinal disorder characterizedby severe visual loss from birth, nystagmus, poor pupillary reflexes, retinalpigmentary or atrophic changes, and a markedly diminished electroretinogram(ERG). PURPOSE: To examine 100 consecutive patients with LCA in order to assessthe relative burden of the three known genes involved in LCA, namely retinalguanylyl cyclase ( GUCY2D ), retinal pigment epithelium protein ( RPE65 ), and the cone-rod homeobox ( CRX ), and to define theirclinical correlates. METHODS: Mutational analysis and detailed clinical examinations were performedin patients diagnosed with LCA at the Johns Hopkins Center for HereditaryEye Diseases and the Montreal Children's Hospital. RESULTS: Mutations were identified in 11% of our patients: GUCY2D mutations accounted for 6%, while RPE65 and CRX gene mutationsaccounted for 3% and 2%, respectively. The clinical presentation was variable;however, the visual evolution in patients with mutations in GUCY2D and CRX remained stable, while individuals with mutations in the RPE65 gene showed progressive visual loss. CONCLUSIONS: This study suggests that molecular diagnosis of Leber congenitalamaurosis could provide important information concerning prognosis and courseof treatment. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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