Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Leber congenital amaurosis 02

Leber congenital amaurosis 2 is an autosomal recessive disorder caused by mutations of the RPE65 gene.

Systematic

Leber congenital amaurosis
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Leber congenital amaurosis 02
RPE65
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References:

1.

Narfström K et al. (1989) The Briard dog: a new animal model of congenital stationary night blindness.

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2.

Wrigstad A et al. (1994) Slowly progressive changes of the retina and retinal pigment epithelium in Briard dogs with hereditary retinal dystrophy. A morphological study.

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3.

Marlhens F et al. (1997) Mutations in RPE65 cause Leber's congenital amaurosis.

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4.

Morimura H et al. (1998) Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis.

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5.

Aguirre GD et al. (1998) Congenital stationary night blindness in the dog: common mutation in the RPE65 gene indicates founder effect.

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6.

Yzer S et al. (2003) A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

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7.

Al-Khayer K et al. (2004) Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

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8.

WAARDENBURG PJ et al. (1963) ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS.

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9.

Chung DC et al. (2009) Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions.

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10.

Maguire AM et al. (2008) Safety and efficacy of gene transfer for Leber's congenital amaurosis.

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11.

Bainbridge JW et al. (2008) Effect of gene therapy on visual function in Leber's congenital amaurosis.

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12.

Hauswirth WW et al. (2008) Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

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13.

Cideciyan AV et al. (2008) Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

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14.

Cideciyan AV et al. (2009) Vision 1 year after gene therapy for Leber's congenital amaurosis.

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15.

Maguire AM et al. (2009) Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

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16.

OMIM.ORG article

Omim 204100 [^]
Update: April 29, 2019