Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population: a retrospective study with up to 36 years follow-up
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Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population : a retrospective study with up to 36 years follow-up. / Lisbjerg, Kristian; Bertelsen, Mette; Forman, Julie Lyng; Grønskov, Karen; Holtan, Josephine Prener; Kessel, Line.
I: Ophthalmic Genetics, Bind 44, Nr. 2, 2023, s. 139-146.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Disease progression of retinitis pigmentosa caused by PRPF31 variants in a Nordic population
T2 - a retrospective study with up to 36 years follow-up
AU - Lisbjerg, Kristian
AU - Bertelsen, Mette
AU - Forman, Julie Lyng
AU - Grønskov, Karen
AU - Holtan, Josephine Prener
AU - Kessel, Line
PY - 2023
Y1 - 2023
N2 - Background/aimsTo investigate the natural history of PRPF31-related retinitis pigmentosa (RP11).Materials and methodsWe 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 converted to logMAR. We performed linear mixed model regression analysis to evaluate annual disease progression, and survival analysis to evaluate the age of legal blindness.ResultsWe included 46 subjects with RP11. Median age of disease onset was 10 years (range 5–65). Follow-up spanned from 0 to 36 years with a median of 8 years. Median Goldmann visual field areas decreased by 10.0% per year (95% CI 7.5%−12.4%) with target IV4e, 7.9% (95% CI 4.5% − 11.2%) with target III4e, and 9.3% (95% CI: 7.0% −11.5%) when combining target sizes. Individuals with RP11 maintained good visual acuity until late stage of disease. Legal blindness was reached at a median age of 57 years (95% CI 50–75 years).ConclusionsPRPF31 variants cause autosomal dominant retinitis pigmentosa that most commonly manifests in childhood with a variable disease progression. Visual field area deteriorates faster than visual acuity and was the major cause of legal blindness in our study population. This study characterizes disease progression in retinitis pigmentosa caused by PRPF31-variants and demonstrates the importance of differentiation between specific genotypes when counselling patients and conducting natural history studies of RP.
AB - Background/aimsTo investigate the natural history of PRPF31-related retinitis pigmentosa (RP11).Materials and methodsWe 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 converted to logMAR. We performed linear mixed model regression analysis to evaluate annual disease progression, and survival analysis to evaluate the age of legal blindness.ResultsWe included 46 subjects with RP11. Median age of disease onset was 10 years (range 5–65). Follow-up spanned from 0 to 36 years with a median of 8 years. Median Goldmann visual field areas decreased by 10.0% per year (95% CI 7.5%−12.4%) with target IV4e, 7.9% (95% CI 4.5% − 11.2%) with target III4e, and 9.3% (95% CI: 7.0% −11.5%) when combining target sizes. Individuals with RP11 maintained good visual acuity until late stage of disease. Legal blindness was reached at a median age of 57 years (95% CI 50–75 years).ConclusionsPRPF31 variants cause autosomal dominant retinitis pigmentosa that most commonly manifests in childhood with a variable disease progression. Visual field area deteriorates faster than visual acuity and was the major cause of legal blindness in our study population. This study characterizes disease progression in retinitis pigmentosa caused by PRPF31-variants and demonstrates the importance of differentiation between specific genotypes when counselling patients and conducting natural history studies of RP.
KW - Retinitis pigmentosa
KW - retinal dystrophy
KW - natural history
KW - PRPF31
KW - RP11
KW - visual field
KW - progression
U2 - 10.1080/13816810.2022.2123006
DO - 10.1080/13816810.2022.2123006
M3 - Journal article
C2 - 36164253
VL - 44
SP - 139
EP - 146
JO - Ophthalmic Genetics
JF - Ophthalmic Genetics
SN - 1381-6810
IS - 2
ER -
ID: 321939670