Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGRORF15 mutation

Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGRORF15 mutation

Purpose: To describe a detailed phenotypic expression of a homozygous female with retinitis pigmentosa (RP) within a consanguineous family revealing an extremely rare genetic constellation with possible implications for future emerging therapies in addressing inherited retinal dystrophies. Observati...

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Bibliographic Details
Main Authors: Marlene Saßmannshausen, Elisa A. Mahler, Sandrine H. Künzel, Constanze L. Kochs, Frank G. Holz, David Rosenkranz, Hanno J. Bolz, Philipp Herrmann
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:American Journal of Ophthalmology Case Reports
Subjects:
RPGR
Retinitis pigmentosa
RP3
Gene-augmentation-therapy
Homozygosity-RPGRORF15
Phenotype-genotype-correlation
Online Access:http://www.sciencedirect.com/science/article/pii/S245199362500043X
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