Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis
โ Scribed by Makoto Nakamura; Sei Ito; Yozo Miyake
- Book ID
- 117018433
- Publisher
- Elsevier Science
- Year
- 2002
- Tongue
- English
- Weight
- 203 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0002-9394
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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