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Article

Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up.

Ophthalmic genetics - 1 Apr 2023

Lisbjerg Kristian, Bertelsen Mette, Lyng Forman Julie, Grønskov Karen, Prener Holtan Josephine, Kessel Line

Abstract excerpt

BACKGROUND/AIMS: To investigate the natural history of PRPF31-related retinitis pigmentosa (RP11). MATERIALS AND METHODS: We identified individuals with RP11 and collected retrospective data from disease onset to present date including genetics, demographic data, Goldmann visual field areas, and visual acuity measurements. Visual fields were evaluated as summed squared degrees and best-corrected visual acuity was...

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PMID: 36164253
DOI: 10.1080/13816810.2022.2123006

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