1.
Cold Spring Harb Perspect Med
; 13(11)2023 Nov 01.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37188525
RESUMEN
Retinitis pigmentosa GTPase regulator (RPGR) gene variants are the predominant cause of X-linked retinitis pigmentosa (XLRP) and a common cause of cone-rod dystrophy (CORD). XLRP presents as early as the first decade of life, with impaired night vision and constriction of peripheral visual field and rapid progression, eventually leading to blindness. In this review, we present RPGR gene structure and function, molecular genetics, animal models, RPGR-associated phenotypes and highlight emerging potential treatments such as gene-replacement therapy.
Asunto(s)
Proteínas del Ojo , Retinitis Pigmentosa , Animales , Mutación , Proteínas del Ojo/genética , Retinitis Pigmentosa/genética , Retinitis Pigmentosa/terapia , Biología Molecular
2.
Int Ophthalmol Clin
; 61(4): 97-108, 2021 10 01.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34584047