Retinopathia pigmentosa ist eine erbliche Netzhaut-Dystrophie die mit einem progressiven Verlust von Photorezeptoren einhergeht. Verschiedene Formen der Vererbung sind beschrieben (dominant, rezessiv, x-chromosomal, mitochondrial). Die Erkrankung ist Begleitbefund verschiedener Ziliopathien.
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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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Yang Z et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. |
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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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Hardcastle AJ et al. (2000) Evidence for a new locus for X-linked retinitis pigmentosa (RP23). |
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Webb TR et al. (2012) Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). |
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McGuire RE et al. (1995) X-linked dominant cone-rod degeneration: linkage mapping of a new locus for retinitis pigmentosa (RP 15) to Xp22.13-p22.11. |
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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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Orphanet article Orphanet ID 791 |
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OMIM.ORG article Omim 268000 |
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Wikipedia Artikel Wikipedia DE (Retinopathia_pigmentosa) |