Novel RDH12 sequence variations in Leber congenital amaurosis
โ Scribed by Andrea Sodi; Roberto Caputo; Ilaria Passerini; Giacomo Maria Bacci; Ugo Menchini
- Book ID
- 116590848
- Publisher
- Elsevier Science
- Year
- 2010
- Tongue
- English
- Weight
- 232 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1528-3933
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Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod
Leber congenital amaurosis (LCA) is a heterogeneous disorder representing the congenital forms of retinitis pigmentosa accounting for about 5% of all retinal dystrophies. The RPE65 gene product is required for regeneration of the visual pigment for phototransduction. Defects in the RPE65 gene have s