RPGR-Related X-Linked Retinitis Pigmentosa Carriers with a Severe "Male Pattern".
Carriers
Genetics
Retinal imaging
Retinitis pigmentosa
Journal
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
ISSN: 1423-0267
Titre abrégé: Ophthalmologica
Pays: Switzerland
ID NLM: 0054655
Informations de publication
Date de publication:
2021
2021
Historique:
received:
09
02
2019
accepted:
25
09
2019
pubmed:
21
5
2020
medline:
18
9
2021
entrez:
21
5
2020
Statut:
ppublish
Résumé
X-linked retinitis pigmentosa (XLRP) due to mutations in the RPGR gene is a very severe form of RP, resulting in rapid disease progression and retinal dysfunction. Female carriers do not usually report symptoms. However, it has reported that carriers of XLRP can have a significant visual and retinal impairment. To report a detailed description of 3 cases of severely affected females who presented with a "male" phenotype and have posed challenges at diagnosis, due to the apparent autosomal dominant family history. Autofluorescence imaging (AF), colour imaging and optical coherence tomography (OCT) were performed. Confirmation of the genetic mutation was obtained by Sanger genetic sequencing. In 1 patient an X-inactivation analysis was performed to detect the X-inactivation ratio, as the percentage of cells tested in which each allele is active. All the patients started suffering from night blindness in early childhood. Colour, fundus AF and OCT images showed the typical pattern of degeneration reported in men. One patient underwent retina implant surgery due to the severe atrophy. This is a small selection of females with a severe phenotype that do not differ from the typical male phenotype. In our opinion gene therapy surgery should be warranted in this scenario.
Sections du résumé
BACKGROUND
BACKGROUND
X-linked retinitis pigmentosa (XLRP) due to mutations in the RPGR gene is a very severe form of RP, resulting in rapid disease progression and retinal dysfunction. Female carriers do not usually report symptoms. However, it has reported that carriers of XLRP can have a significant visual and retinal impairment.
OBJECTIVES
OBJECTIVE
To report a detailed description of 3 cases of severely affected females who presented with a "male" phenotype and have posed challenges at diagnosis, due to the apparent autosomal dominant family history.
METHOD
METHODS
Autofluorescence imaging (AF), colour imaging and optical coherence tomography (OCT) were performed. Confirmation of the genetic mutation was obtained by Sanger genetic sequencing. In 1 patient an X-inactivation analysis was performed to detect the X-inactivation ratio, as the percentage of cells tested in which each allele is active.
RESULTS
RESULTS
All the patients started suffering from night blindness in early childhood. Colour, fundus AF and OCT images showed the typical pattern of degeneration reported in men. One patient underwent retina implant surgery due to the severe atrophy.
CONCLUSIONS
CONCLUSIONS
This is a small selection of females with a severe phenotype that do not differ from the typical male phenotype. In our opinion gene therapy surgery should be warranted in this scenario.
Identifiants
pubmed: 32434206
pii: 000503687
doi: 10.1159/000503687
doi:
Substances chimiques
Eye Proteins
0
RPGR protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
60-67Informations de copyright
© 2020 S. Karger AG, Basel.