Identification of novel mutations in the GRK1 gene in an Algerian family with Oguchi disease

AIM: To describe novel variants in the G protein-coupled receptor kinase 1 (GRK1) gene associated with Oguchi disease and to analyze the different multimodal imaging results. METHODS: Five members of a single family were enrolled, including two confirmed cases of Oguchi disease and three carriers wi...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Julio Cesar Molina Martín, Gerardo P. García García, Ezequiel Campos Mollo, María Magdalena García Navarro, Luis Alberto Molina Martín, Carmen Desco Esteban, David P. Piñero
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	Press of International Journal of Ophthalmology (IJO PRESS) 2026-05-01
سلاسل:	International Journal of Ophthalmology
الموضوعات:	oguchi disease grk1 gene mizuo-nakamura phenomenon optical coherence tomography
الوصول للمادة أونلاين:	https://www.ijo.cn/gjyken/article/pdf/20260512
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!