Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Retinitis pigmentosa 17

Die Retinitis pigmentosa 17 ist eine autosomal dominante Augen-Erkrankung, die durch Mutationen im Carboanhydrase-Gen (CA4) hervorgerufen wird.

Gliederung

Erbliche Augenerkrankungen und Sehstörungen
Fischaugen-Erkrankung
Hereditäres Glaucom
Knobloch-Syndrome 1
Makuladegeneration
Marles-Syndrom
Papillorenales Syndrom
Retinitis pigmentosa 17
CA4
Syndromische Microphthalmie 6
Usher-Syndrom

Referenzen:

1.

Bardien S et. al. (1995) An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

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2.

Bardien S et. al. (1997) Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.

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3.

Rebello G et. al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.

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4.

Yang Z et. al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.

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5.

Alvarez BV et. al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.

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6.

den Hollander AI et. al. (1999) Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22.

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7.

Bardien-Kruger S et. al. (1999) Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin.

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