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Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage

✍ Scribed by Daryl Kurz; Thomas A. Ciulla


Book ID
117018825
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
228 KB
Volume
135
Category
Article
ISSN
0002-9394

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✍ Carlo Rivolta; Naomi E. Peck; Anne B. Fulton; Gerald A. Fishman; Eliot L. Berson πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 31 KB

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