Is RPGR-related retinal dystrophy associated with systemic disease? A case series.
Ophthalmic Genet
; 44(6): 577-584, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-36602268
ABSTRACT
BACKGROUND:
Ciliopathies responsible for retinitis pigmentosa can also cause systemic manifestations. RPGR is a ciliary gene and pathogenic variants in RPGR cause a retinal ciliopathy, the commonest cause of X-linked recessive retinitis pigmentosa. The RPGR protein interacts with numerous other ciliary proteins present in the transition zone of both motile and sensory cilia, and may play an important role in regulating ciliary protein transport. There has been a growing, putative association of RPGR variants with systemic ciliopathies mainly sino-respiratory infections and primary ciliary dyskinesia. MATERIALS ANDMETHODS:
Retrospective case series of patients with RPGR-RP presenting to Oxford Eye Hospital with systemic disease.RESULTS:
We report three children with RPGR-related rod-cone dystrophy, all of whom have mutations in the N-terminus of RPGR. Two cases co-presented with confirmed diagnoses of primary ciliary dyskinesia and one case with multiple sino-respiratory symptoms strongly suggestive of primary ciliary dyskinesia. These and all previously reported RPGR co-pathologies relate to ciliopathies and have no other systemic associations.CONCLUSIONS:
The link between RPGR variants and a systemic ciliopathy remains plausible, but currently unproven.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Motilidade Ciliar
/
Proteínas do Olho
/
Distrofias Retinianas
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article