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

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 ye...

Source: BMC Ophthalmology - January 14, 2021 Category: Opthalmology Authors: Marcella Nebbioso, Federica Franzone, Alessandro Lambiase, Maurizio La Cava, Fabiana Mallone, Antonio Pizzuti and Enrica Marchionni Tags: Case report Source Type: research