Four novel mutations in the RPE65 gene i
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Marcia J. Simovich; Beverly Miller; Hany Ezzeldin; Bryan T. Kirkland; Genevieve
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Article
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2001
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John Wiley and Sons
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English
⚖ 23 KB
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