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Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1
PURPOSE: In a cohort of 8 families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1. METHODS: Visual function was determined by measuring the patients’ visual acuity, dark- and light-adapted perimetry, and by f...
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| Publicado en: | Ophthalmic Genet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
2020
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7815954/ https://ncbi.nlm.nih.gov/pubmed/33465333 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2020.1832532 |
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