Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Retinoid isomerohydrolase

The RPE65 gene encodes an enzyme involved in regeneration of visual pigments in the retina. Mutations cause autosomal recessive Leber congenital amaurosis type 2.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 02



Kondo H et al. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

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Seeliger MW et al. (2001) New views on RPE65 deficiency: the rod system is the source of vision in a mouse model of Leber congenital amaurosis.

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Thompson DA et al. (2002) Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

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Felius J et al. (2002) Clinical course and visual function in a family with mutations in the RPE65 gene.

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Van Hooser JP et al. (2002) Recovery of visual functions in a mouse model of Leber congenital amaurosis.

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Rohrer B et al. (2003) Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging.

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Remé CE et al. (2003) The dangers of seeing light in the dark.

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Woodruff ML et al. (2003) Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.

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Xue L et al. (2004) A palmitoylation switch mechanism in the regulation of the visual cycle.

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

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Znoiko SL et al. (2005) Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages.

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Moiseyev G et al. (2005) RPE65 is the isomerohydrolase in the retinoid visual cycle.

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Doyle SE et al. (2006) Nonvisual light responses in the Rpe65 knockout mouse: rod loss restores sensitivity to the melanopsin system.

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Wenzel A et al. (2007) RPE65 is essential for the function of cone photoreceptors in NRL-deficient mice.

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Samardzija M et al. (2008) R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal.

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Samardzija M et al. (2009) In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death.

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Maeda T et al. (2009) Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

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Thompson DA et al. (2000) Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

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Gu SM et al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.

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

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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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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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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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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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Båvik CO et al. (1992) Characterization of a plasma retinol-binding protein membrane receptor expressed in the retinal pigment epithelium.

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Nicoletti A et al. (1995) Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.

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Hamel CP et al. (1994) The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3.

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Hamel CP et al. (1993) Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro.

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Redmond TM et al. (1998) Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

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Grimm C et al. (2000) Protection of Rpe65-deficient mice identifies rhodopsin as a mediator of light-induced retinal degeneration.

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Van Hooser JP et al. (2000) Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness.

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Acland GM et al. (2001) Gene therapy restores vision in a canine model of childhood blindness.

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NCBI article

NCBI 6121 external link

OMIM.ORG article

Omim 180069 external link

Orphanet article

Orphanet ID 118376 external link

Wikipedia article

Wikipedia EN (RPE65) external link
Update: Aug. 14, 2020
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