Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Lebersche kongenitale Amaurose 02

Lebersche kongenitale Amaurose 2 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RPE65-Gens beruht.

Gliederung

Lebersche kongenitale Amaurose
Lebersche kongenitale Amaurose 01
Lebersche kongenitale Amaurose 02
RPE65
Lebersche kongenitale Amaurose 03
Lebersche kongenitale Amaurose 04
Lebersche kongenitale Amaurose 05
Lebersche kongenitale Amaurose 06
Lebersche kongenitale Amaurose 07
Lebersche kongenitale Amaurose 08
Lebersche kongenitale Amaurose 09
Lebersche kongenitale Amaurose 10
Lebersche kongenitale Amaurose 11
Lebersche kongenitale Amaurose 12
Lebersche kongenitale Amaurose 13
Lebersche kongenitale Amaurose 14
Lebersche kongenitale Amaurose 15
Lebersche kongenitale Amaurose 16
Lebersche kongenitale Amaurose 17
Lebersche kongenitale Amaurose 18

Referenzen:

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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