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Genetische Ursachen erblicher Erkrankungen der Zapfen-Photorezeptoren

Genetic causes of hereditary cone and cone-rod dystrophies

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Zusammenfassung

Hintergrund

Zapfen- und Zapfen-Stäbchen-Dystrophien gehören zu den sowohl genetisch als auch phänotypisch sehr heterogenen erblichen Netzhauterkrankungen. Der Beitrag soll einen Überblick über den aktuellen Wissenstand der beteiligten Gene für diese seltenen Erkrankungen, die vornehmlich die Zapfen-Photorezeptoren betreffen, geben.

Methode

Literatur- und Datenbank-Recherche sowie Zusammenfassung eigener molekulargenetischer Untersuchungen bei Patienten mit Achromatopsie, Blauzapfen-Monochromasie, Zapfen- und Zapfen-Stäbchen-Dystrophie.

Ergebnis

Zapfen- und Zapfen-Stäbchen-Dystrophien können aufgrund des klinischen Verlaufs in stationäre und progressive sowie anhand des zugrunde liegenden Erbgangs in autosomal-rezessive, autosomal-dominante und X-chromosomale Formen unterschieden werden. Bis heute konnten 7 Gene für autosomal-rezessiv erbliche Zapfen- und Zapfen-Stäbchen-Dystrophien, 9 für autosomal-dominant erbliche Formen und 2 Gene auf dem X-Chromosom identifiziert werden. Kopplungsgenetische Kartierungen haben außerdem Hinweise auf jeweils 2 weitere Loci für Zapfen- und Zapfen-Stäbchen-Dystrophien mit autosomal-dominantem, autosomal-rezessivem und X-chromosomalem Erbgang ergeben.

Schlussfolgerung

Verlässliche Daten zu Prävalenz und Inzidenz erblicher Zapfen- und Zapfen-Stäbchen-Dystrophien sowie der beteiligten Gene und Mutationen liegen nur in Einzelfällen vor. Mit den heute bekannten Genen lässt sich nur bei einem Teil der Patienten die genetische Ursache ergründen.

Abstract

Background

Cone and cone-rod dystrophies belong to the genetically and phenotypically very heterogeneous group of retinal degenerations. This article aims to review the current knowledge of genes and mutations involved in these rare disorders that primarily affect the cone photoreceptor system.

Methods

Literature and database search and summary of our own molecular genetic analyses in patients affected by achromatopsia, blue cone monochromatism, and cone and cone-rod dystrophy.

Results

Cone and cone-rod dystrophies can be divided according to the disease course into stationary and progressive disorders or by the genetic mode of inheritance into autosomal-recessive, autosomal-dominant, and X-linked traits. To date, seven genes for autosomal-recessive and nine for autosomal-dominant inherited forms of cone and cone-rod dystrophy, as well as two underlying genes on the X chromosome, have been identified. Linkage analyses imply two additional loci for autosomal-dominant, autosomal-recessive, and X-linked forms of these disorders.

Conclusion

Reliable data on the prevalence and incidence of hereditary cone and cone-rod dystrophies and the underlying genetic defects exist only for distinct clinical and genetic entities. Analysis of the known genes results in identification of the genetic defect and mutation in only a subset of patients.

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  1. Molekulargenetisches Labor, Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Universitätsklinikum Tübingen, Röntgenweg 11, 72076, Tübingen, Deutschland

    S. Kohl

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Kohl, S. Genetische Ursachen erblicher Erkrankungen der Zapfen-Photorezeptoren. Ophthalmologe 106, 109–115 (2009). https://doi.org/10.1007/s00347-008-1864-2

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