X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

X-linked dominant RPGR gene mutation in a familial Coats angiomatosis

Abstract Background Retinitis Pigmentosa (RP) is the most frequent retinal hereditary disease and every kind of transmission pattern has been described. The genetic etiology of RP is extremely heterogeneous and in the last few years the large application of Next Generation Sequencing (NGS) approache...

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Bibliographic Details
Main Authors: Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti, Enrica Marchionni
Format: Article
Language:English
Published: BMC 2021-01-01
Series:BMC Ophthalmology
Subjects:
Case report
Coats’-type retinitis pigmentosa
Coats vasculopathy
Hereditary disease
RPGR- XLRP- Coats’-like retinitis
Online Access:https://doi.org/10.1186/s12886-020-01791-5

Internet

https://doi.org/10.1186/s12886-020-01791-5

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