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Leber congenital amaurosis in siblings with diffuse dysmyelination

✍ Scribed by Curless, Richard G.; Flynn, John T.; Olsen, Karl R.; Judith Post, M.

Book ID
123129906
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
329 KB
Volume
7
Category
Article
ISSN
0887-8994

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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